Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L30V
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INS

NM_000207.3:p.L30V

Associated Papers

A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.

Tong Y et al.

Embo Molecular Medicine, 2026

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

Ataie-Ashtiani S et al.

Cells, 2023

Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.

Ngoc CTB et al.

Frontiers in Endocrinology, 2022

[Insulin gene mutations].

Nishi M

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012

Insulin gene mutations and diabetes.

Nishi M et al.

Journal of Diabetes Investigation, 2011

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Støy J et al.

Reviews in Endocrine & Metabolic Disorders, 2010

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.

Meur G et al.

Diabetes, 2010

[Insulin gene mutation].

Nishi M et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

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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."