Varaico: Literature-Extracted Genetic Variants

Gene:PMPCA
Variant:p.K126I
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PMPCA

NM_015160.3:p.K126I

Associated Papers

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.

Palmer CS et al.

Febs Letters, 2021

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

Joshi M et al.

Cold Spring Harbor Molecular Case Studies, 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Yoon G et al.

Brain : a Journal of Neurology, 2016

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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."