Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.R482K
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TGFBR1

NM_004612.4:p.R482K

Associated Papers

Aortic Dissection in a Young Patient With Unsuspected Aortopathy.

Perez Y et al.

Pediatrics, 2023

Loeys-Dietz syndrome: Case report and review of the literature.

Malyuk DF et al.

Radiology Case Reports, 2022

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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."