Varaico: Literature-Extracted Genetic Variants

Gene:PMPCB
Variant:p.V177G
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PMPCB

NM_004279.3:p.V177G

Associated Papers

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

Palmer CS et al.

Febs Letters, 2021

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

Vögtle FN et al.

American Journal of Human Genetics, 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."