Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2C
Variant:p.D794V
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GUCY2C

NM_004963.4:p.D794V

Associated Papers

Congenital diarrhea and enteropathies caused by a heterozygous mutation in the GUCY2C gene: a rare case report.

Yuan C et al.

Frontiers in Pediatrics, 2025

A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations.

van Vugt AHM et al.

Clinical and Translational Gastroenterology, 2021

Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach.

Wolfe RM et al.

American Journal of Medical Genetics. Part A, 2021

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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."