Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.S54R
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PAX8

NM_003466.4:p.S54R

Associated Papers

Abstracts from the 71st Annual Meeting of the British Thyroid Association.

Unknown Author

Thyroid Research, 2023

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

Iwahashi M et al.

Journal of Molecular Endocrinology, 2019

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

Liu S et al.

Oncotarget, 2017

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

Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.

Hermanns P et al.

Thyroid : Official Journal of the American Thyroid Association, 2013

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