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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX3

Variant:p.Y305*

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PAX3

NM_181458.4:p.Y305*

hg38:chr2:222221265 G>C

Associated Papers

A cascade of genes related to Waardenburg syndrome.

Tachibana M

The Journal of Investigative Dermatology. Symposium Proceedings, 1999

10536986 (PubMed )

Waardenburg syndrome.

Read AP et al.

Journal of Medical Genetics, 1997

9279758 (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."