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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMPR2

Variant:p.L5delins

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BMPR2

NM_001204.7:p.L5delins

hg38:chr2:202377487 C>TTCT

Associated Papers

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

Eyries M et al.

Nature Genetics, 2014

24292273 (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."