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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMPR2

Variant:p.D323Splc

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BMPR2

NM_001204.7:p.D323Splc

hg38:chr2:202520210 G>C

Associated Papers

Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia.

Chiu JS et al.

Journal of Pediatric Surgery, 2017

28162765 (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."