Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.I510S
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TGFBR2

NM_003242.6:p.I510S

Associated Papers

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

Zimmermann MT et al.

Plos One, 2017

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Drera B et al.

Orphanet Journal of Rare Diseases, 2009

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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."