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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTC7A

Variant:p.E522insFs

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TTC7A

NM_020458.4:p.E522insFs

hg38:chr2:47023461 G>GT

Associated Papers

Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency.

Jardine S et al.

Gastroenterology, 2020

31743734 (PubMed )

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