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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WASF1

Variant:p.P374S

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WASF1

NM_003931.3:p.P374S

hg38:chr6:110101990 G>A

Associated Papers

Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome.

Ferreira MC et al.

Clinical Biochemistry, 2015

26162493 (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."