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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.S298N

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PAH

NM_000277.3:p.S298N

hg38:chr12:102851706 C>T

Associated Papers

Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.

Pousada G et al.

Scientific Reports, 2016

27630060 (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."