Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.R364Splc
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SMPD1

NM_000543.5:p.R364Splc

Associated Papers

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

Hu J et al.

Human Mutation, 2021

Lysosomal storage diseases.

Ferreira CR et al.

Translational Science of Rare Diseases, 2017

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

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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."