Varaico: Literature-Extracted Genetic Variants

Gene:TTC7A
Variant:p.L69P
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TTC7A

NM_020458.4:p.L69P

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 Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.

Huang Z et al.

Clinical Reviews in Allergy & Immunology, 2025

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.

Mou W et al.

Frontiers in Immunology, 2021

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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."