Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2C
Variant:p.N757fs
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GUCY2C

NM_004963.4:p.N757fs

Associated Papers

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

Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.

Woods JD et al.

The Journal of Pediatrics, 2019

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.

Smith A et al.

European Journal of Human Genetics : Ejhg, 2015

Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.

Romi H et al.

American Journal of Human Genetics, 2012

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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."