Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.R80Q
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TGFBR1

NM_004612.4:p.R80Q

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

Phenotypic plasticity and genetic control in colorectal cancer evolution.

Househam J et al.

Nature, 2022

36289336 (PubMed )
Supplement: 41586_2022_5311_MOESM9_ESM.xlsx › Fig._2d
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