Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.R49H
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PAX8

NM_003466.4:p.R49H

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

Clinical and Genetic Characteristics of Adult Nonautoimmune Hypothyroidism: A Single-institution Study.

Sugisawa C et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

Zou M et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Somatic mutations and increased lymphangiogenesis observed in a rare case of intramucosal gastric carcinoma with lymph node metastasis.

Ikari N et al.

Oncotarget, 2018

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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."