Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.G41V
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PAX8

NM_003466.4:p.G41V

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients.

Li M et al.

Endokrynologia Polska, 2020

Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.

Qian F et al.

Chinese Medical Journal, 2019

Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.

Liu S et al.

Oncotarget, 2017

A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.

Zou H et al.

International Journal of Clinical and Experimental Pathology, 2015

Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism.

Liu SG et al.

Journal of Endocrinological Investigation, 2012

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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."