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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACVRL1

Variant:p.G350Splc

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ACVRL1

NM_000020.3:p.G350Splc

hg38:chr12:51916031 C>G

Associated Papers

Genetic counselling in a national referral centre for pulmonary hypertension.

Girerd B et al.

The European Respiratory Journal, 2016

26699722 (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."