Varaico: Literature-Extracted Genetic Variants

Gene:EPCAM
Variant:p.D219_V220Splc
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EPCAM

NM_002354.3:p.D219_V220Splc

Associated Papers

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

Fang Y et al.

Clinical Genetics, 2025

Three patients with new mutations in the EPCAM variant gene for congenital tufting enteropathy and a mutation review in China: a case report.

Wang SN et al.

Translational Pediatrics, 2024

New mutation in EPCAM for congenital tufting enteropathy: A case report.

Zhou YQ et al.

World Journal of Clinical Cases, 2020

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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."