The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
about
Genome annotation for clinical genomic diagnostics: strengths and weaknessesThe NF1 somatic mutational landscape in sporadic human cancers.The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.Promises, pitfalls and practicalities of prenatal whole exome sequencing.Epidemiology of mucopolysaccharidoses.Distinguishing pathogenic mutations from background genetic noise in cardiology: the use of large genome databases for genetic interpretation.The role of the ATP2C1 gene in Hailey-Hailey disease.Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).Vermont: a multi-perspective visual interactive platform for mutational analysis.Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient.When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.Biological and functional relevance of CASP predictions.Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.VarCards: an integrated genetic and clinical database for coding variants in the human genome.Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease.Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History.Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.Alpha galactosidase A activity in Parkinson's disease.An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.FATHMM-XF: accurate prediction of pathogenic point mutations via extended features.In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.Site-specific randomization of the endogenous genome by a regulatable CRISPR-Cas9 piggyBac system in human cells.A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.BioMuta and BioXpress: mutation and expression knowledgebases for cancer biomarker discovery.Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.Implementing genome-driven personalized cardiology in clinical practice.Whole Exome Sequencing: Applications in Prenatal Genetics.A novel ATTR L32V mutation causes familial amyloid polyneuropathy in a Bolivian family.MECP2 variation in Rett syndrome - an overview of current coverage of genetic and phenotype data within existing databasesIdentification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.Prediction and interpretation of deleterious coding variants in terms of protein structural stability.
P2860
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P2860
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年学术文章
@wuu
2017年学术文章
@zh-cn
2017年学术文章
@zh-hans
2017年学术文章
@zh-my
2017年学术文章
@zh-sg
2017年學術文章
@yue
2017年學術文章
@zh
2017年學術文章
@zh-hant
name
The Human Gene Mutation Databa ...... generation sequencing studies.
@ast
The Human Gene Mutation Databa ...... generation sequencing studies.
@en
type
label
The Human Gene Mutation Databa ...... generation sequencing studies.
@ast
The Human Gene Mutation Databa ...... generation sequencing studies.
@en
prefLabel
The Human Gene Mutation Databa ...... generation sequencing studies.
@ast
The Human Gene Mutation Databa ...... generation sequencing studies.
@en
P2093
P2860
P1433
P1476
The Human Gene Mutation Databa ...... generation sequencing studies.
@en
P2093
Andrew D Phillips
Edward V Ball
Katy Evans
Matthew Hayden
Matthew Mort
Michelle Hussain
Peter D Stenson
Sally Heywood
P2860
P2888
P304
P356
10.1007/S00439-017-1779-6
P577
2017-03-27T00:00:00Z
2017-06-01T00:00:00Z