Varaico: Literature-Extracted Genetic Variants

Gene:PAM16
Variant:p.Q74P
Back to variants list

PAM16

NM_016069.11:p.Q74P

Associated Papers

Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.

Jain S et al.

Genes, 2024

Mitochondrial Protein Homeostasis and Cardiomyopathy.

Wachoski-Dark E et al.

International Journal of Molecular Sciences, 2022

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

Palmer CS et al.

Febs Letters, 2021

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.

Zhao T et al.

International Journal of Molecular Sciences, 2020

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.

Moosa S et al.

American Journal of Medical Genetics. Part A, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."