Varaico: Literature-Extracted Genetic Variants

Gene:SNRPA
Variant:p.R7P
Back to variants list

SNRPA

NM_004596.5:p.R7P

Associated Papers

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

Martínez-Pizarro A et al.

Plos Genetics, 2018

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."