Varaico: Literature-Extracted Genetic Variants

Gene:MSTO1
Variant:p.A243P
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MSTO1

NM_018116.4:p.A243P

Associated Papers

Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.

Liu Y et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2025

Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants.

Liu L et al.

Frontiers in Genetics, 2022

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia.

Chen J et al.

Frontiers in Neurology, 2022

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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."