Varaico: Literature-Extracted Genetic Variants

Gene:EPCAM
Variant:p.D253N
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EPCAM

NM_002354.3:p.D253N

Associated Papers

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

Fang Y et al.

Clinical Genetics, 2025

Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations.

Alkhalifa S et al.

Case Reports in Pediatrics, 2023

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Güvenoğlu M et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2022

NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Esposito MV et al.

Diagnostics (basel, Switzerland), 2021

Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression.

Ozler O et al.

Jpgn Reports, 2021

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Pathak SJ et al.

Human Mutation, 2019

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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."