Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.R389H
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SMPD1

NM_000543.5:p.R389H

Associated Papers

A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.

Gedallovich J et al.

Journal of Hematopathology, 2025

Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.

Navarrete-Martínez JI et al.

Molecular Genetics and Metabolism, 2017

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.

Cerón-Rodríguez M et al.

Annals of Hepatology, 0

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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."