Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS1
Variant:p.P1003H
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MBTPS1

NM_003791.4:p.P1003H

Associated Papers

A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema.

Schweitzer GG et al.

Molecular Genetics & Genomic Medicine, 2019

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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."