Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.R2W
Back to variants list

PTRH1

NM_001002913.3:p.R2W

Associated Papers

The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.

Syriani E et al.

Journal of the Neurological Sciences, 2009

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."