Varaico: Literature-Extracted Genetic Variants

Gene:CCN2
Variant:p.M318R
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CCN2

NM_001901.4:p.M318R

Associated Papers

TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

Cardoso S et al.

Journal of Receptor and Signal Transduction Research, 2012

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL et al.

The New England Journal of Medicine, 2006

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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."