Varaico: Literature-Extracted Genetic Variants

Gene:SGMS2
Variant:p.D276A
Back to variants list

SGMS2

NM_001375905.1:p.D276A

Associated Papers

Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway.

Sokoya T et al.

Elife, 2022

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.

Pekkinen M et al.

Jci Insight, 2019

Discovery and characterization of selective human sphingomyelin synthase 2 inhibitors.

Adachi R et al.

European Journal of Medicinal Chemistry, 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."