Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.G23D
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PAX8

NM_003466.4:p.G23D

Associated Papers

Genetic Variability of the Paired Box Transcription Factor; PAX8 Gene: Guidance Towards Treatment Strategies in a Cohort of Congenital Hypothyroidism.

El-Ella SSA et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2021

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

Li M et al.

Endokrynologia Polska, 2020

Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.

Kumorowicz-Czoch M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

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

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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."