Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis

Item
http://www.wikidata.org/entity/Q28116000
Reclassification of diabetes etiology in a family with multiple diabetes phenotypesPhenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.Insights into the genetic susceptibility to type 2 diabetes from genome-wide association studies of glycaemic traits.Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.
P2860

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis

Item
http://www.wikidata.org/entity/Q28116000
description
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2012
@ast
im Juli 2012 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2012/07/01)
@sk
vědecký článek publikovaný v roce 2012
@cs
wetenschappelijk artikel (gepubliceerd op 2012/07/01)
@nl
наукова стаття, опублікована в липні 2012
@uk
مقالة علمية (نشرت في يوليو 2012)
@ar
name
Insights into the pathogenicit ...... ble mutations inherited in cis
@ast
Insights into the pathogenicit ...... ble mutations inherited in cis
@en
Insights into the pathogenicit ...... ble mutations inherited in cis
@nl
type
label
Insights into the pathogenicit ...... ble mutations inherited in cis
@ast
Insights into the pathogenicit ...... ble mutations inherited in cis
@en
Insights into the pathogenicit ...... ble mutations inherited in cis
@nl
prefLabel
Insights into the pathogenicit ...... ble mutations inherited in cis
@ast
Insights into the pathogenicit ...... ble mutations inherited in cis
@en
Insights into the pathogenicit ...... ble mutations inherited in cis
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Insights into the pathogenicit ...... ble mutations inherited in cis
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932