Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.S54C
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PAX8

NM_003466.4:p.S54C

Associated Papers

A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation.

Tanase-Nakao K et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain.

Iwahashi M et al.

Journal of Molecular Endocrinology, 2019

A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.

Srichomkwun P et al.

Hormone Research in Paediatrics, 2016

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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."