Varaico: Literature-Extracted Genetic Variants

Gene:TTC7A
Variant:p.Q712*
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TTC7A

NM_020458.4:p.Q712*

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

Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.

Mandiá N et al.

Medicine, 2018

Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.

Lawless D et al.

Journal of Clinical Immunology, 2017

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

Yang W et al.

Clinical Genetics, 2015

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

Chen R et al.

The Journal of Allergy and Clinical Immunology, 2013

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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."