Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.D390_C393delFs
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TGFBR2

NM_003242.6:p.D390_C393delFs

Associated Papers

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.

Wischmeijer A et al.

American Journal of Medical Genetics. Part A, 2013

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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."