Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.P313P
Back to variants list

SMPD1

NM_000543.5:p.P313P

Associated Papers

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.

Matalonga L et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2015

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."