Varaico: Literature-Extracted Genetic Variants

Gene:TTC7A
Variant:p.D63E
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TTC7A

NM_020458.4:p.D63E

Associated Papers

Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.

Imhoff J et al.

American Journal of Medical Genetics. Part A, 2025

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

TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review.

Fayard J et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 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."