Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.G48A
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PAX3

NM_181458.4:p.G48A

Associated Papers

Genetics of Waardenburg Syndrome in Africa: A Systematic Review.

Aboagye ET et al.

International Journal of Molecular Sciences, 2025

41516007 (PubMed )
Supplement: ijms-27-00127-s001.zip › Table__S.1-3._and_5.xlsx › Table_S5

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

Sun F et al.

Orphanet Journal of Rare Diseases, 2024

Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations.

Corry GN et al.

Pigment Cell Research, 2005

The Homeodomain Resource: sequences, structures and genomic information.

Banerjee-Basu S et al.

Nucleic Acids Research, 1999

Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain.

Fortin AS et al.

Human Molecular Genetics, 1997

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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."