Varaico: Literature-Extracted Genetic Variants

Gene:EPCAM
Variant:p.T127I
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EPCAM

NM_002354.3:p.T127I

Associated Papers

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

Fang Y et al.

Clinical Genetics, 2025

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

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

Pathak SJ et al.

Human Mutation, 2019

Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.

Tang W et al.

Journal of Clinical Gastroenterology, 2018

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Salomon J et al.

Human Genetics, 2014

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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."