Varaico: Literature-Extracted Genetic Variants

Gene:EPCAM
Variant:p.Q197*
Back to variants list

EPCAM

NM_002354.3:p.Q197*

Associated Papers

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

Fang Y et al.

Clinical Genetics, 2025

The Genetic Architecture of Congenital Diarrhea and Enteropathy.

Gaibee Z et al.

The New England Journal of Medicine, 2025

40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table

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

Pathak SJ et al.

Human Mutation, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."