Varaico: Literature-Extracted Genetic Variants

Gene:TTC7A
Variant:p.A504Splc
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TTC7A

NM_020458.4:p.A504Splc

Associated Papers

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

Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

Yang W et al.

Clinical Genetics, 2015

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

Bigorgne AE et al.

The Journal of Clinical Investigation, 2014

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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."