Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.I317fs
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PAX3

NM_181458.4:p.I317fs

Associated Papers

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.

Wildhardt G et al.

Bmj Open, 2013

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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."