Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.Q844*
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BMPR2

NM_001204.7:p.Q844*

Associated Papers

The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.

Okhrimenko G et al.

Respiratory Research, 2025

40229839 (PubMed )
Supplement: 12931_2025_3214_MOESM2_ESM.xlsx › Assessment_

Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience.

Ishizuka M et al.

Frontiers in Pediatrics, 2023

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

Evans DG et al.

Ebiomedicine, 2016

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