Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
about
New insights into the generation and role of de novo mutations in health and diseaseEnvironmental insults: critical triggers for amyotrophic lateral sclerosisWhole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).Targeted Sequencing and Meta-Analysis of Preterm Birth.Global Carrier Rates of Rare Inherited Disorders Using Population Exome SequencesIdentification of a de novo DYNC1H1 mutation via WES according to published guidelines.Genetic ablation of IP3 receptor 2 increases cytokines and decreases survival of SOD1G93A mice.mirDNMR: a gene-centered database of background de novo mutation rates in human.denovo-db: a compendium of human de novo variants.Annotating pathogenic non-coding variants in genic regionsEpigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis.The role of de novo mutations in the development of amyotrophic lateral sclerosis.CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing.ALS: Recent Developments from Genetics Studies.Further development of biomarkers in amyotrophic lateral sclerosis.Energy Homeostasis and Abnormal RNA Metabolism in Amyotrophic Lateral SclerosisIdentification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.Theme 9 Genetics
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P2860
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Exome sequencing of case-unaff ...... etic variants in sporadic ALS.
@ast
Exome sequencing of case-unaff ...... etic variants in sporadic ALS.
@en
type
label
Exome sequencing of case-unaff ...... etic variants in sporadic ALS.
@ast
Exome sequencing of case-unaff ...... etic variants in sporadic ALS.
@en
prefLabel
Exome sequencing of case-unaff ...... etic variants in sporadic ALS.
@ast
Exome sequencing of case-unaff ...... etic variants in sporadic ALS.
@en
P2093
P2860
P356
P1433
P1476
Exome sequencing of case-unaff ...... etic variants in sporadic ALS.
@en
P2093
Daniel C Koboldt
Elaine R Mardis
Karyn Meltz Steinberg
Roger Pamphlett
P2860
P2888
P356
10.1038/SREP09124
P407
P50
P577
2015-03-16T00:00:00Z
P5875
P6179
1019809268