Varaico: Literature-Extracted Genetic Variants

Gene:SMPDL3A
Variant:p.H16Y
Back to variants list

SMPDL3A

NM_006714.5:p.H16Y

Associated Papers

Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia.

Patel C et al.

Clinical Case Reports, 2020

32884773 (PubMed )
Supplement: CCR3-8-1452-s003.xlsx › Sheet1
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."