Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.Q442_V443Splc
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NPC1

NM_000271.5:p.Q442_V443Splc

Associated Papers

Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.

Merkens LS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."