Varaico: Literature-Extracted Genetic Variants

Gene:SGPL1
Variant:p.S362T
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SGPL1

NM_003901.4:p.S362T

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

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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."