Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.W712*
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MYORG

NM_020702.5:p.W712*

Associated Papers

A patient with a MYORG variant in primary brain calcification has rapid clinical course and increased calcification volume on an image analyzer.

Hozumi I et al.

Clinical Neurology and Neurosurgery, 2025

Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.

Hobara T et al.

Acta Neuropathologica Communications, 2024

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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."