Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.N764_S765insFs
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BMPR2

NM_001204.7:p.N764_S765insFs

Associated Papers

Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.

Kim MJ et al.

Bmb Reports, 2017

Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension.

Nasim MT et al.

Human Molecular Genetics, 2008

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.

Machado RD et al.

Human Molecular Genetics, 2003

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Machado RD et al.

American Journal of Human Genetics, 2001

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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."