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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTC7A

Variant:p.Q652delFs

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TTC7A

NM_001288951.2:p.Q652delFs

hg38:chr2:47047300 CA>C

Associated Papers

A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems.

Sharafian S et al.

Journal of Investigational Allergology & Clinical Immunology, 2018

30350797 (PubMed )

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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."