Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.G232D
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SMPD1

NM_000543.5:p.G232D

Associated Papers

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

Simonaro CM et al.

American Journal of Human Genetics, 2002

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.

Wasserstein MP et al.

Molecular Genetics and Metabolism, 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."