Varaico: Literature-Extracted Genetic Variants

Gene:TTC7A
Variant:p.A524V
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TTC7A

NM_020458.4:p.A524V

Associated Papers

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.

El-Daher MT et al.

Frontiers in Immunology, 2019

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure.

El-Daher MT et al.

Cell Discovery, 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."