Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.R361G
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BMPR1A

NM_004329.3:p.R361G

Associated Papers

SMAD4 mutations found in unselected HHT patients.

Gallione CJ et al.

Journal of Medical Genetics, 2006

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Howe JR et al.

Journal of Medical Genetics, 2004

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Gallione CJ et al.

Lancet (london, England), 2004

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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."