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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPCAM

Variant:p.R125insFs

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EPCAM

NM_002354.3:p.R125insFs

hg38:chr2:47373996 A>AC

Associated Papers

Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.

Fang Y et al.

Clinical Genetics, 2025

39980129 (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."