Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.V601_A602del1
Back to variants list

MYORG

NM_020702.5:p.V601_A602del1

Associated Papers

A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review.

Song T et al.

Frontiers in Neurology, 2023

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

MYORG Mutation Heterozygosity Is Associated With Brain Calcification.

Chen Y et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."