Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.Q230K
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PAX3

NM_181458.4:p.Q230K

Associated Papers

Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.

Tawfik CA et al.

Ophthalmic Genetics, 2025

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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."