about
RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma familyPredicting the effects of frameshifting indelsIdentification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primatesGenes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general populationFrom mouse to human: evolutionary genomics analysis of human orthologs of essential genesIntegrative annotation of variants from 1092 humans: application to cancer genomicsAn integrated map of genetic variation from 1,092 human genomesInsights into hominid evolution from the gorilla genome sequencePersonalized medicine: hope or hype?Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defectsDevelopments in FINDbase worldwide database for clinically relevant genomic variation allele frequenciesIdentification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseExome sequencing identifies the cause of a mendelian disorderDBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sitesClinical assessment incorporating a personal genomeMolecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370SGenetic Misdiagnoses and the Potential for Health DisparitiesMenkes disease: what a multidisciplinary approach can doMultivariate Methods for Genetic Variants Selection and Risk Prediction in Cardiovascular DiseasesTwo-phase and family-based designs for next-generation sequencing studiesThe challenges, advantages and future of phenome-wide association studiesEndoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XMicroattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domainNetwork-based elucidation of human disease similarities reveals common functional modules enriched for pluripotent drug targetsThree-dimensional reconstruction of protein networks provides insight into human genetic diseaseTarget essentiality and centrality characterize drug side effectsDeriving a mutation index of carcinogenicity using protein structure and protein interfacesPON-P2: prediction method for fast and reliable identification of harmful variantsThe human disease network in terms of dysfunctional regulatory mechanismsFoxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 geneNext-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsCollection of variation causing disease--the Human Variome ProjectBioinformatics for personal genome interpretationA general framework for estimating the relative pathogenicity of human genetic variantsActionable exomic incidental findings in 6503 participants: challenges of variant classificationEvolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2)CoagVDb: a comprehensive database for coagulation factors and their associated SAPsAutomated inference of molecular mechanisms of disease from amino acid substitutions.eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variantsMassively parallel sequencing and rare disease.
P2860
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P2860
description
2009 nî lūn-bûn
@nan
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
2009年论文
@zh
2009年论文
@zh-cn
name
The Human Gene Mutation Database: 2008 update.
@en
type
label
The Human Gene Mutation Database: 2008 update.
@en
prefLabel
The Human Gene Mutation Database: 2008 update.
@en
P2093
P2860
P356
P1433
P1476
The Human Gene Mutation Database: 2008 update.
@en
P2093
Andrew D Phillips
Edward V Ball
Katy Howells
Matthew Mort
Nick St Thomas
Peter D Stenson
P2860
P2888
P356
10.1186/GM13
P577
2009-01-22T00:00:00Z
P5875
P6179
1014981379