Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC3
Variant:p.V131_L132Splc
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DNAJC3

NM_006260.5:p.V131_L132Splc

Associated Papers

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.

Di Pasquale G et al.

Clinical Genetics, 2025

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants.

Welters A et al.

International Journal of Molecular Sciences, 2024

Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy.

Alwatban S et al.

Frontiers in Endocrinology, 2021

Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.

Ozon ZA et al.

Pediatric Diabetes, 2020

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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."