Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.P192fs
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SMPD1

NM_001007593.3:p.P192fs

Associated Papers

[A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization].

Cho YU et al.

The Korean Journal of Laboratory Medicine, 2009

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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."