Varaico: Literature-Extracted Genetic Variants

Gene:PMPCB
Variant:p.A201P
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PMPCB

NM_004279.3:p.A201P

Associated Papers

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 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

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.

Long PA et al.

Journal of the American Heart Association, 2015

26656454 (PubMed )
Supplement: JAH3-4-e002443-s001.pdf
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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."