Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.L371delFs
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SMPD1

NM_000543.5:p.L371delFs

Associated Papers

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.

Girard S et al.

Hemasphere, 2024

Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.

Sako S et al.

Human Genome Variation, 2024

38866761 (PubMed )
Supplement: 41439_2024_282_MOESM2_ESM.xlsx › Supp_Table_2

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Abtahi R et al.

Journal of Molecular Neuroscience : Mn, 2022

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › SMPD1
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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."