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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WASHC5

Variant:p.E570K

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WASHC5

NM_014846.4:p.E570K

hg38:chr8:125059278 C>T

Associated Papers

A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease.

Hong JM et al.

Journal of Clinical Neurology (seoul, Korea), 2021

34595861 (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."