Varaico: Literature-Extracted Genetic Variants

Gene:SGPL1
Variant:p.S361*
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SGPL1

NM_003901.4:p.S361*

Associated Papers

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

A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.

Maharaj A et al.

Frontiers in Pediatrics, 2020

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

Atkinson D et al.

Neurology, 2017

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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."