Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.H105D
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TGFBR1

NM_004612.4:p.H105D

Associated Papers

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

Starr LJ et al.

American Journal of Medical Genetics. Part A, 2023

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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."