Varaico: Literature-Extracted Genetic Variants

Gene:S1PR3
Variant:p.S346I
Back to variants list

S1PR3

NM_005226.4:p.S346I

Associated Papers

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Lovric S et al.

The Journal of Clinical Investigation, 2017

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."