Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.A160D
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BMP2

NM_001200.4:p.A160D

Associated Papers

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.

Paquet ME et al.

Human Molecular Genetics, 2001

Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms.

Shovlin CL et al.

Thorax, 1999

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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."