Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.G48delFs
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PAX3

NM_181458.4:p.G48delFs

Associated Papers

A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.

Zhan L et al.

Frontiers in Genetics, 2025

Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

Sun F et al.

Orphanet Journal of Rare Diseases, 2024

38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1
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