Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.R610H
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SMPD1

NM_000543.5:p.R610H

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

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Zeevi DA et al.

Molecular Genetics & Genomic Medicine, 2021

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

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.

Alcalay RN et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

Crystal structure of mammalian acid sphingomyelinase.

Gorelik A et al.

Nature Communications, 2016

27435900 (PubMed )
Supplement: ncomms12196-s1.pdf
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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."