Human Splicing Finder: an online bioinformatics tool to predict splicing signals. - Wikidata - wikimedia - TriplyDB

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

http://www.wikidata.org/entity/Q34973311

about

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness FAM20A mutations can cause enamel-renal syndrome (ERS).The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer Developments in our understanding of the genetic basis of birth defects A guide for functional analysis of BRCA1 variants of uncertain significance In silico tools for splicing defect prediction: a survey from the viewpoint of end users Candidate gene association studies: a comprehensive guide to useful in silico tools Clinical and genetic features of cervical dystonia in a large multicenter cohort An exon splice enhancer primes IGF2:IGF2R binding site structure and function evolution.Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition.STAT2 deficiency and susceptibility to viral illness in humans Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia Germline mutations in RAD51D confer susceptibility to ovarian cancer Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark Expanding the phenotype and genotype of female GnRH deficiency Targeted genome-wide enrichment of functional regions Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient Epilepsy caused by an abnormal alternative splicing with dosage effect of the SV2A gene in a chicken model Deleterious GRM1 mutations in schizophrenia Splicing variants of SERPINA1 gene in ovine milk: characterization of cDNA and identification of polymorphisms Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene NLS copy-number variation governs efficiency of nuclear import--case study on dUTPases Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations Adaptive Evolution Coupled with Retrotransposon Exaptation Allowed for the Generation of a Human-Protein-Specific Coding Gene That Promotes Cancer Cell Proliferation and Metastasis in Both Haematological Malignancies and Solid Tumours: The Extraordi Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

http://www.wikidata.org/entity/Q34973311

description

2009 nî lūn-bûn

@nan

2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@ast

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@en

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@nl

type

label

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@ast

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@en

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@nl

prefLabel

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@ast

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@en

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@nl

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Nucleic Acids Research

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

@en

P2093

Dalil Hamroun

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

François-Olivier Desmet

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

Marine Lalande

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

P2860

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

What is the Human Variome Project?

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

Spliced segments at the 5' terminus of adenovirus 2 late mRNA

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

MEME: discovering and analyzing DNA and protein sequence motifs

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

Comprehensive proteomic analysis of the human spliceosome

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype

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e67

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scholarly article

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10.1093/NAR/GKP215

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9

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37

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Gwenaëlle Collod-Béroud

Mireille Claustres

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2009-04-01T00:00:00Z

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24251205

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19339519

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2685110

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