Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.F20S
Back to variants list

PAX8

NM_003466.4:p.F20S

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

Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain.

Iwahashi M et al.

Journal of Molecular Endocrinology, 2019

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

Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.

Liu S et al.

Oncotarget, 2017

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."