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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMPR2

Variant:p.Y218delins

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BMPR2

NM_001204.7:p.Y218delins

hg38:chr2:202518853 AT>CC

Associated Papers

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

Chen YJ et al.

European Journal of Clinical Investigation, 2013

23919827 (PubMed )

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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."