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 Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Huang Z et al.
Clinical Reviews in Allergy & Immunology, 2025
Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.
Diociaiuti A et al.
Genes, 2022
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