Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.V512M
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SMPD1

NM_000543.5:p.V512M

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_17

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Crystal structure of mammalian acid sphingomyelinase.

Gorelik A et al.

Nature Communications, 2016

27435900 (PubMed )
Supplement: ncomms12196-s1.pdf
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