Varaico: Literature-Extracted Genetic Variants

Gene:SGPL1
Variant:p.G360fs
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SGPL1

NM_003901.4:p.G360fs

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

Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.

Sedillo JC et al.

Genetics in Medicine Open, 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

Genotype/Phenotype Interactions and First Steps Toward Targeted Therapy for Sphingosine Phosphate Lyase Insufficiency Syndrome.

Saba JD et al.

Cell Biochemistry and Biophysics, 2021

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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."