Work

From genotype to phenotype: reverse phenotyping of a novel INSR variant in a large family with hyperinsulinemic hypoglycemia

Year: 2026

Type: article

Source: Journal of Applied Genetics

DOI: 10.1007/s13353-026-01121-3

Authors: Lala Soltanova, Yücel Erbilgin, Yasemin Menkli, Pinar Kadioglu, Müge Sayitoğlu

Institutions: Istanbul University-Cerrahpaşa, Istanbul University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7222831757

FWCI:

Cites: 35

Cited by:

Related to: 10