Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.L214L
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PAX3

NM_001127366.3:p.L214L

Associated Papers

Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.

Wang G et al.

Human Genetics, 2022

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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."