Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.V58I
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PAX8

NM_003466.4:p.V58I

Associated Papers

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

Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.

Yamaguchi T et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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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."