Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.G44R
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INS

NM_000207.3:p.G44R

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

A rare homozygous INS variant causes adult-onset diabetes.

Tans R et al.

Bmj Open Diabetes Research & Care, 2024

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Huerta-Chagoya A et al.

Nature Genetics, 2024

39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8

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

Ahmed EM et al.

Journal of Personalized Medicine, 2024

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

Ataie-Ashtiani S et al.

Cells, 2023

Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.

Younis H et al.

Journal of Personalized Medicine, 2022

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

[Analysis of INS gene variant in a juvenile with maturity-onset diabetes of the young type 10].

Kang H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.

Doddabelavangala Mruthyunjaya M et al.

Plos One, 2017

Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics.

Pande AR et al.

Indian Journal of Endocrinology and Metabolism, 0

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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."