Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.A33Splc
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TGFBR1

NM_004612.4:p.A33Splc

Associated Papers

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

Loeys BL et al.

The New England Journal of Medicine, 2006

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Loeys BL et al.

Nature Genetics, 2005

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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."