Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.H55R
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PAX8

NM_003466.4:p.H55R

Associated Papers

Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Cao Z et al.

Molecular Genetics & Genomic Medicine, 2024

38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1

Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China.

Gong Y et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022

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