Detalhe da pesquisa
1.
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
Hum Mutat
; 42(4): 408-420, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410562
2.
Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.
Gastroenterology
; 157(2): 421-431, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30998989
3.
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.
Diabetes
; 71(3): 578-584, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34556497