Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.I528delFs
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SMPD1

NM_000543.5:p.I528delFs

Associated Papers

The Effects of Liver Transplantation in Children With Niemann-Pick Disease Type B.

Liu Y et al.

Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2019

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Zampieri S et al.

Human Mutation, 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."