Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.V42A
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INS

NM_000207.3:p.V42A

Associated Papers

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.

Ataie-Ashtiani S et al.

Cells, 2023

Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.

Aarthy R et al.

Journal of Diabetes and Its Complications, 2021

Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.

Ushijima K et al.

Pediatric Diabetes, 2018

Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.

Delvecchio M et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.

Piccini B et al.

European Journal of Medical Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."