Detalhe da pesquisa
1.
Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Hum Mutat
; 41(5): 884-905, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027066
2.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311378
3.
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
J Biol Chem
; 292(9): 3866-3876, 2017 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28057753
4.
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Genet Med
; 19(10): 1096-1104, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301460
5.
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.
Diabetes Res Clin Pract
; 151: 231-236, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31063852