Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.P190L
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SMPD1

NM_000543.5:p.P190L

Associated Papers

Understanding Parkinson disease in Spain: Genetic and clinical insights.

Gómez-Garre P et al.

European Journal of Neurology, 2025

39498811 (PubMed )
Supplement: ENE-32-e16499-s008.xlsx › Hoja1

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.

Wang R et al.

Hereditas, 2023

36907956 (PubMed )
Supplement: 41065_2023_272_MOESM3_ESM.xlsx › Sheet1
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