Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.P48_K49delFs
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MYORG

NM_020702.5:p.P48_K49delFs

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 )
Supplement: pbio.3001764.s007.pdf

Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.

Chen Y et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

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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."