Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.L254P
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SMPD1

NM_000543.5:p.L254P

Associated Papers

In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity.

Ancien F et al.

International Journal of Molecular Sciences, 2021

33925997 (PubMed )
Supplement: ijms-22-04516-s001.zip › ijms-1137197-supplementary.pdf
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