Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.D46fs
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PAX8

NM_003466.4:p.D46fs

Associated Papers

Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.

Iwahashi-Odano M et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus.

Martin-Montalvo A et al.

Diabetes, 2019

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.

Narumi S et al.

European Journal of Endocrinology, 2012

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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."