Varaico: Literature-Extracted Genetic Variants

Gene:TGFB2
Variant:p.T294_H308del15
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TGFB2

NM_001135599.4:p.T294_H308del15

Associated Papers

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

Ritelli M et al.

Bmc Medical Genetics, 2014

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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."