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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYORG

Variant:p.D520N

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MYORG

NM_020702.5:p.D520N

hg38:chr9:34371386 C>T

Associated Papers

The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity.

Meek RW et al.

Plos Biology, 2022

36129849 (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."