Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies - Wikidata - awgldk - TriplyDB

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

http://www.wikidata.org/entity/Q34922683

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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies FINDbase: a worldwide database for genetic variation allele frequencies updated Improvements to GALA and dbERGE II: databases featuring genomic sequence alignment, annotation and experimental results Malarial pathocoenosis: beneficial and deleterious interactions between malaria and other human diseases Online biomedical resources for malaria-related red cell disorders Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain α-thalassaemia Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)].Cataloging coding sequence variations in human genome databases Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.Strategy for identification by mass spectrometry of a new human hemoglobin variant with two mutations in Cis in the beta-globin chain: Hb S-Clichy [beta6(A3)Glu-->Val; beta8(A5)Lys-->Thr].Primate malarias: Diversity, distribution and insights for zoonotic Plasmodium.Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.IthaGenes: an interactive database for haemoglobin variations and epidemiology Screening for beta thalassaemia Integration of modern genetic knowledge and technology into public health in India.Identification and key management of non-transfusion-dependent thalassaemia patients: not a rare but potentially under-recognised condition Molecular Diagnostics of β-Thalassemia.Effects of hemoglobin variants on hemoglobin a1c values measured using a high-performance liquid chromatography method.Role of α-globin H helix in the building of tetrameric human hemoglobin: interaction with α-hemoglobin stabilizing protein (AHSP) and heme molecule Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension SuRFing the genomics wave: an R package for prioritising SNPs by functionality HbD Punjab/HbQ India Compound Heterozygosity: An Unusual Association.A synthetic model of human beta-thalassemia erythropoiesis using CD34+ cells from healthy adult donors.Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Induction of human fetal hemoglobin via the NRF2 antioxidant response signaling pathway Hemoglobin F level in different hemoglobin variants A new unstable variant of the fetal hemoglobin HBG2 gene: Hb F-Turritana [(G) γ64(E8)Gly→Asp, HBG2:c.194G>A] found in cis to the Hb F-Sardinia gene [(A) γ(E19)Ile→Thr, HBG1:c.227T>C].α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient.Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq.FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene Comparative effects of three iron chelation therapies on the quality of life of greek patients with homozygous transfusion-dependent Beta-thalassemia.Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation.Interaction of haptoglobin with hemoglobin octamers based on the mutation αAsn78Cys or βGly83Cys.Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants

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Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

http://www.wikidata.org/entity/Q34922683

description

2004 nî lūn-bûn

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2004 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2004 թվականի հունվարին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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name

Improvements in the HbVar data ...... and sequence variation studies

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Improvements in the HbVar data ...... and sequence variation studies

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Improvements in the HbVar data ...... and sequence variation studies

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type

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Improvements in the HbVar data ...... and sequence variation studies

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Improvements in the HbVar data ...... and sequence variation studies

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Improvements in the HbVar data ...... and sequence variation studies

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Improvements in the HbVar data ...... and sequence variation studies

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Improvements in the HbVar data ...... and sequence variation studies

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Improvements in the HbVar data ...... and sequence variation studies

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Nucleic Acids Research

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Improvements in the HbVar data ...... and sequence variation studies

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Belinda Giardine

http://www.w3.org/2001/XMLSchema#string

Cathy Riemer

http://www.w3.org/2001/XMLSchema#string

David H K Chui

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George P Patrinos

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Henri Wajcman

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Nicholas P Anagnou

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A vision for the future of genomics research

Human-mouse alignments with BLASTZ

The UCSC Genome Browser Database

Database resources of the National Center for Biotechnology

GALA, a database for genomic sequence alignments and annotations

Carrier screening and genetic counselling in beta-thalassemia.

MultiPipMaker and supporting tools: Alignments and analysis of multiple genomic DNA sequences.

Globin gene server: a prototype E-mail database server featuring extensive multiple alignments and data compilation for electronic genetic analysis.

A database of experimental results on globin gene expression.

Ensembl 2002: accommodating comparative genomics

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scholarly article

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10.1093/NAR/GKH006

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Database issue

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32

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2004-01-01T00:00:00Z

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14681476

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308741

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