Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.D397G
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TGFBR2

NM_003242.6:p.D397G

Associated Papers

Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.

Devine KR et al.

Scientific Reports, 2026

41519957 (PubMed )
Supplement: 41598_2026_35325_MOESM1_ESM.pdf

Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.

Almpani K et al.

Journal of Medical Genetics, 2022

34916229 (PubMed )
Supplement: jmedgenet-2021-107695supp001.pdf

Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.

Jani P et al.

Journal of Medical Genetics, 2020

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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."