Varaico: Literature-Extracted Genetic Variants

Gene:SPINT2
Variant:p.C166_R167insFs
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SPINT2

NM_021102.4:p.C166_R167insFs

Associated Papers

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

Fang Y et al.

Clinical Genetics, 2025

Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.

Cai C et al.

Gastroenterology Research and Practice, 2020

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

Salomon J et al.

Human Genetics, 2014

New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia.

AlMahamed S et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0

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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."