Varaico: Literature-Extracted Genetic Variants

Gene:COA7
Variant:p.G144delFs
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COA7

NM_023077.3:p.G144delFs

Associated Papers

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Higuchi Y et al.

Journal of Neurology, 2024

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.

Ouchi S et al.

Bmc Neurology, 2023

Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient.

Ban R et al.

Frontiers in Genetics, 2021

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Higuchi Y et al.

Brain : a Journal of Neurology, 2018

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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."