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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMP7

Variant:p.G353V

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BMP7

NM_001719.3:p.G353V

hg38:chr20:57173288 C>A

Associated Papers

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

Cardoso S et al.

Journal of Receptor and Signal Transduction Research, 2012

22414221 (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."