Analysis of protein-coding genetic variation in 60,706 humans
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Deep sequencing of 10,000 human genomesTechnological considerations for genome-guided diagnosis and management of cancerUnderstanding rare and common diseases in the context of human evolutionBeyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer GenesNew insights into the generation and role of de novo mutations in health and diseaseRecent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian DescendantsClinical and Mechanistic Insights Into the Genetics of CardiomyopathyIntegrating cancer genomic data into electronic health recordsHuman GRIN2B variants in neurodevelopmental disordersLoss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway diseaseHigh-density array-CGH with targeted NGS unmask multiple noncontiguous minute deletions on chromosome 3p21 in mesotheliomaDisGeNET: a comprehensive platform integrating information on human disease-associated genes and variantsThe Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesEnsembl 2017Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout miceHuman Germline Mutation and the Erratic Evolutionary ClockTesting the role of predicted gene knockouts in human anthropometric trait variationVariants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationLoss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and NeurodegenerationTen Simple Rules to Enable Multi-site Collaborations through Data SharingEDNRB mutations cause Waardenburg syndrome type II in the heterozygous stateOpposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile SeizuresNonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeFunctional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO MutationIFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndromeMutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismEpileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Emerging Affinity-Based Proteomic Technologies for Large-Scale Plasma Profiling in Cardiovascular Disease.Big Data Analytics for Genomic MedicineThe Hypertension Pandemic: An Evolutionary Perspective.Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.The Genetic Landscape of Renal Complications in Type 1 Diabetes.Investigation of SHANK3 in schizophrenia.Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats.The Arc Gene Confers Genetic Susceptibility to Alzheimer's Disease in Han Chinese.
P2860
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P2860
Analysis of protein-coding genetic variation in 60,706 humans
description
2016 nî lūn-bûn
@nan
2016 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Analysis of protein-coding genetic variation in 60,706 humans
@ast
Analysis of protein-coding genetic variation in 60,706 humans
@en
Analysis of protein-coding genetic variation in 60,706 humans
@nl
type
label
Analysis of protein-coding genetic variation in 60,706 humans
@ast
Analysis of protein-coding genetic variation in 60,706 humans
@en
Analysis of protein-coding genetic variation in 60,706 humans
@nl
prefLabel
Analysis of protein-coding genetic variation in 60,706 humans
@ast
Analysis of protein-coding genetic variation in 60,706 humans
@en
Analysis of protein-coding genetic variation in 60,706 humans
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Analysis of protein-coding genetic variation in 60,706 humans
@en
P2093
Ami Levy Moonshine
Andrew J. Hill
Anne H. O’Donnell-Luria
Ben Weisburd
Benjamin M. Neale
Beryl B. Cummings
Brett P. Thomas
Christine Stevens
Daniel G. MacArthur
Daniel Howrigan
P2860
P2888
P304
P3181
P356
10.1038/NATURE19057
P407
P50
P577
2016-08-17T00:00:00Z
P6179
1022281897