Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.S3_S4ins1
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BMPR2

NM_001204.7:p.S3_S4ins1

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.

Higasa K et al.

Bmc Pulmonary Medicine, 2017

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