Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.I334T
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SMPD1

NM_000543.5:p.I334T

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

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_2

Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.

Hu J et al.

Human Mutation, 2021

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Chen YP et al.

Journal of Parkinson's Disease, 2021

34250953 (PubMed )
Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1

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
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