Associated Papers
TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes.
Shojaei Jeshvaghani Z et al.
Human Molecular Genetics, 2025
TTC7A: Steward of Intestinal Health.
Jardine S et al.
Cellular and Molecular Gastroenterology and Hepatology, 2019
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
Neves JF et al.
European Journal of Medical Genetics, 2018
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