Varaico: Literature-Extracted Genetic Variants

Gene:MTPAP
Variant:p.Q511*
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MTPAP

NM_018109.4:p.Q511*

Associated Papers

Clinical and molecular assessment of a spastic ataxia 4 (SPAX4) patient with a novel variant in the MTPAP gene, and a systematic review.

Ravanbod M et al.

Gene, 2025

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.

Hiramatsu Y et al.

Journal of 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."