Varaico: Literature-Extracted Genetic Variants

Gene:MAPKAP1
Variant:p.S75N
Back to variants list

MAPKAP1

NM_001006617.3:p.S75N

Associated Papers

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Baruffini E et al.

Mitochondrion, 2015

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

Baruffini E et al.

Mitochondrion, 2011

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

Stumpf JD et al.

Human Molecular Genetics, 2010

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Chan SS et al.

Biochimica Et Biophysica Acta, 2009

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

Baruffini E et al.

Human Molecular Genetics, 2006

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."