Varaico: Literature-Extracted Genetic Variants

Gene:SGPL1
Variant:p.C285Y
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SGPL1

NM_003901.4:p.C285Y

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

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

Thompson L et al.

Frontiers in Pediatrics, 2024

38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1

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

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2019

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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."