Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.V499M
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SMPD1

NM_000543.5:p.V499M

Associated Papers

Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.

Chew EG et al.

Nature Aging, 2025

39572736 (PubMed )
Supplement: 43587_2024_760_MOESM3_ESM.xlsx › Supplementary_Table_8

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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