Varaico: Literature-Extracted Genetic Variants

Gene:BMP10
Variant:p.L32Q
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BMP10

NM_014482.3:p.L32Q

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

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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."