Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.A426D
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TGFBR2

NM_003242.6:p.A426D

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

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

Jani P et al.

Journal of Medical Genetics, 2020

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
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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."