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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CALHM3

Variant:p.F151L

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CALHM3

NM_001129742.2:p.F151L

hg38:chr10:103476384 G>C

Associated Papers

Fabry disease due to D313Y and novel GLA mutations.

Koulousios K et al.

Bmj Open, 2017

28988177 (PubMed )

Supplement: bmjopen-2017-017098.draft_revisions.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."