Varaico: Literature-Extracted Genetic Variants

Gene:SGPL1
Variant:p.L173Q
Back to variants list

SGPL1

NM_003901.4:p.L173Q

Associated Papers

Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.

Keller N et al.

Orphanet Journal of Rare Diseases, 2024

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.

Maharaj A et al.

Endocrine Connections, 2022

Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.

Seven Menevse T et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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."