Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR2
Variant:p.A527T
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TGFBR2

NM_003242.6:p.A527T

Associated Papers

Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.

Sado T et al.

Den Open, 2026

Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ.

Guerrerio AL et al.

Inflammatory Bowel Diseases, 2016

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Poninska JK et al.

Journal of Translational Medicine, 2016

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