Varaico: Literature-Extracted Genetic Variants

Gene:TTC7A
Variant:p.A839T
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TTC7A

NM_020458.4:p.A839T

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

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

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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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."