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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSPB8

Variant:p.R71W

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HSPB8

NM_014365.3:p.R71W

hg38:chr12:119179523 C>T

Associated Papers

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.

Shy M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

28754666 (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."