Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.A23S
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INS

NM_000207.3:p.A23S

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

Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.

Cook TW et al.

Biomolecules, 2023

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

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

A family with permanent neonatal diabetes due to a novel mutation in INS gene.

Dimova R et al.

Diabetes Research and Clinical Practice, 2015

Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young.

Dusatkova L et al.

European Journal of Medical Genetics, 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

Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth.

Liu M et al.

Trends in Endocrinology and Metabolism: Tem, 2010

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

Støy J et al.

Reviews in Endocrine & Metabolic Disorders, 2010

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

Boesgaard TW et al.

Bmc Medical Genetics, 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."