Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.M382I
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SERPINA1

NM_000295.5:p.M382I

Associated Papers

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.

Takahashi T et al.

The Journal of Biological Chemistry, 1992

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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."