Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.G23V
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PAX8

NM_003466.4:p.G23V

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 pathogenic variants in Chinese patients with congenital hypothyroidism.

Fu C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

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