Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.P1887L
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NBEAL2

NM_015175.3:p.P1887L

Associated Papers

Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.

Bereczky Z et al.

Genes, 2025

41300788 (PubMed )
Supplement: genes-16-01336-s001.zip › genes-3947445-supplementary.pdf

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

Leinøe E et al.

British Journal of Haematology, 2017

28748566 (PubMed )
Supplement: BJH-179-308-s001.docx
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