Varaico: Literature-Extracted Genetic Variants

Gene:SMAD1
Variant:p.R69H
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SMAD1

NM_005900.3:p.R69H

Associated Papers

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.

Mallet C et al.

Human Molecular Genetics, 2015

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Lesca G 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."