Varaico: Literature-Extracted Genetic Variants

Gene:GLIS3
Variant:p.A908V
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GLIS3

NM_001042413.2:p.A908V

Associated Papers

Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.

Huang X et al.

Biomedical Reports, 2025

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

Zhang RJ et al.

Clinical Endocrinology, 2022

Molecular and clinical genetics of the transcription factor GLIS3 in Chinese congenital hypothyroidism.

Zhang RJ et al.

Molecular and Cellular Endocrinology, 2021

Sequencing reveals protective and pathogenic effects on development of diabetes of rare GLIS3 variants.

Sun J et al.

Plos One, 2019

GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.

Jetten AM

Cellular and Molecular Life Sciences : Cmls, 2018

Emerging roles of GLIS3 in neonatal diabetes, type 1 and type 2 diabetes.

Wen X et al.

Journal of Molecular Endocrinology, 2017

A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.

Awata T et al.

Biochemical and Biophysical Research Communications, 2013

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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."