Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2C
Variant:p.N850D
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GUCY2C

NM_004963.4:p.N850D

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

Gut-associated cGMP mediates colitis and dysbiosis in a mouse model of an activating mutation in GUCY2C.

Mishra V et al.

The Journal of Experimental Medicine, 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

Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease-related mutations.

Bose A et al.

Iubmb Life, 2020

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

Müller T et al.

Gut, 2016

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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."