Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.R542Q
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SMPD1

NM_000543.5:p.R542Q

Associated Papers

A genetic analysis of a Spanish population with early onset Parkinson's disease.

Cristina TP et al.

Plos One, 2020

32870915 (PubMed )
Supplement: pone.0238098.s003.pdf

Genetic risk factors in Finnish patients with Parkinson's disease.

Ylönen S et al.

Parkinsonism & Related Disorders, 2017

Crystal structure of mammalian acid sphingomyelinase.

Gorelik A et al.

Nature Communications, 2016

27435900 (PubMed )
Supplement: ncomms12196-s1.pdf
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