Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.L381P
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BMPR1A

NM_004329.3:p.L381P

Associated Papers

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.

Ricard N et al.

Blood, 2010

Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.

Fujiwara M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

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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."