TGFBR1 - Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)
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Diseases list
- Disease-causing germline mutation(s) in Familial thoracic aortic aneurysm and aortic dissection
- Disease-causing germline mutation(s) in Loeys-Dietz syndrome type 1
- Major susceptibility factor in Multiple keratoacanthoma, Ferguson-Smith type
Assessed
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