Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.G385_Y386insFs
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PAX1

NM_001257096.2:p.G385_Y386insFs

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome.

Carter S et al.

European Journal of Human Genetics : Ejhg, 2022

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