Varaico: Literature-Extracted Genetic Variants

Gene:AIFM1
Variant:p.G399S
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AIFM1

NM_004208.4:p.G399S

Associated Papers

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 2021

Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation.

Pandolfo M et al.

Neurology. Genetics, 2020

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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."