Varaico: Literature-Extracted Genetic Variants

Gene:EPCAM
Variant:p.E238*
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EPCAM

NM_002354.3:p.E238*

Associated Papers

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Urtis M et al.

Genes, 2025

41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf

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

Fang Y et al.

Clinical Genetics, 2025

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

Esposito MV et al.

Diagnostics (basel, Switzerland), 2021

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