Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.R296Q
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SMPD1

NM_000543.5:p.R296Q

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

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

Towns C et al.

Npj Parkinson's Disease, 2024

39420034 (PubMed )
Supplement: 41531_2024_778_MOESM1_ESM.docx

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

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

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Zampieri S et al.

Human Mutation, 2016

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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."