Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.S3insFs
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BMPR2

NM_001204.7:p.S3insFs

Associated Papers

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.

Thomson JR et al.

Journal of Medical Genetics, 2000

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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."