Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.P52L
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INS

NM_000207.3:p.P52L

Associated Papers

Maturity-Onset Diabetes of the Young 10 (MODY10): A Comprehensive Review of Genetics, Clinical Features, and Therapeutic Advances.

Mazloum A et al.

International Journal of Molecular Sciences, 2025

Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.

Yu F et al.

Chinese Medical Journal, 2025

40178110 (PubMed )
Supplement: cm9-138-1129-s001.pdf

Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.

Ahmed EM et al.

Journal of Personalized Medicine, 2024

Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.

Yu H et al.

Journal of Molecular Cell Biology, 2023

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

Ataie-Ashtiani S et al.

Cells, 2023

Prevalence of maturity-onset diabetes of the young in phenotypic type 2 diabetes in young adults: a nationwide, multi-center, cross-sectional survey in China.

Chen Y et al.

Chinese Medical Journal, 2023

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

Yang Y et al.

Frontiers in Endocrinology, 2021

Biological behaviors of mutant proinsulin contribute to the phenotypic spectrum of diabetes associated with insulin gene mutations.

Wang H et al.

Molecular and Cellular Endocrinology, 2020

Polymorphisms of the insulin-like growth factor-binding protein 3 gene (IGFBP3) in gayal (Bos frontalis).

Xi D et al.

Gene, 2012

Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2?

Královicová J et al.

Diabetes, 2006

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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."