Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.R46*
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INS

NM_000207.3:p.R46*

Associated Papers

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.

Mianesaz H et al.

Journal of Diabetes Investigation, 2024

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

Ataie-Ashtiani S et al.

Cells, 2023

In celebration of a century with insulin - Update of insulin gene mutations in diabetes.

Støy J et al.

Molecular Metabolism, 2021

A Novel Nonsense INS Mutation Causes Inefficient Preproinsulin Translocation Into the Endoplasmic Reticulum.

Yang Y et al.

Frontiers in Endocrinology, 2021

Carnitine transport and fatty acid oxidation.

Longo N et al.

Biochimica Et Biophysica Acta, 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."