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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WASF1

Variant:p.Q517fs

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WASF1

NM_003931.3:p.Q517fs

hg38:chr6:110100653 CTG>N

Associated Papers

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

Bras J et al.

American Journal of Human Genetics, 2015

25728773 (PubMed )

Supplement: mmc2.pdf

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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."