Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.H156L
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TYRP1

NM_000550.3:p.H156L

Associated Papers

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

Baruffini E et al.

Mitochondrion, 2011

A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.

Szczepanowska K et al.

Human Molecular Genetics, 2010

Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human.

Baruffini E et al.

Biochimica Et Biophysica Acta, 2007

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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."