Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.S59R
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PAX8

NM_003466.4:p.S59R

Associated Papers

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

Unknown Author

Thyroid Research, 2023

Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ.

Batjargal K et al.

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

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.

Camats N et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

Park KJ et al.

Annals of Laboratory Medicine, 2016

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