Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.Q334*
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PAX8

NM_003466.4:p.Q334*

Associated Papers

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

Qi R et al.

Frontiers in Endocrinology, 2025

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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."