Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.A24V
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INS

NM_000207.3:p.A24V

Associated Papers

Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of GCK-MODY

Kayaş L et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Pathogenic signal peptide variants in the human genome.

Gutierrez Guarnizo SA et al.

Nar Genomics and Bioinformatics, 2023

37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › C-region

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

Ataie-Ashtiani S et al.

Cells, 2023

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea.

Cheon CK et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

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

Dimova R et al.

Diabetes Research and Clinical Practice, 2015

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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."