Varaico: Literature-Extracted Genetic Variants

Gene:SLPI
Variant:p.Q56*
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SLPI

NM_003064.4:p.Q56*

Associated Papers

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.

Bossler AD et al.

Human Mutation, 2006

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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."