Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.K80_A84ins1
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PAX8

NM_003466.4:p.K80_A84ins1

Associated Papers

Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.

Long W et al.

International Journal of Endocrinology, 2020

32565793 (PubMed )
Supplement: 6808517.f1.zip › 6808517.f1 › supplement_table_1.xlsx › Supplement_Table_1

PAX8 mutation disturbing thyroid follicular growth: a case report.

Narumi S et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.

Narumi S et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."