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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BZW2

Variant:p.N95S

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BZW2

NM_014038.3:p.N95S

hg38:chr7:16681349 A>G

Associated Papers

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Zhu N et al.

Genome Medicine, 2018

30029678 (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."