Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.D20G
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INS

NM_000207.3:p.D20G

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

Genome-wide screening for genetic variants in polyadenylation signal (PAS) sites in mouse selection lines for fatness and leanness.

Šimon M et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2023

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.

Bohn E et al.

Frontiers in Molecular Biosciences, 2023

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Johnston JJ et al.

Journal of Medical Genetics, 2019

INS-gene mutations: from genetics and beta cell biology to clinical disease.

Liu M et al.

Molecular Aspects of Medicine, 2015

[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 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."