Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.G48C
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PAX3

NM_181458.4:p.G48C

Associated Papers

Genetics of Waardenburg Syndrome in Africa: A Systematic Review.

Aboagye ET et al.

International Journal of Molecular Sciences, 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

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

Mkaouar R et al.

Frontiers in Genetics, 2024

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

Bocángel MAP et al.

European Journal of Medical Genetics, 2018

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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."