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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX3

Variant:p.P318delFs

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PAX3

NM_181458.4:p.P318delFs

hg38:chr2:222221225 GT>G

Associated Papers

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

Hart J et al.

American Journal of Medical Genetics. Part A, 2017

28686331 (PubMed )

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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."