Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.W535*
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SMPD1

NM_000543.5:p.W535*

Associated Papers

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.

Morado Arias M et al.

Diseases (basel, Switzerland), 2025

A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.

Koros C et al.

Genes, 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_3
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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."