Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2C
Variant:p.S955delins
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GUCY2C

NM_004963.4:p.S955delins

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

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

Bose A et al.

Iubmb Life, 2020

When moments matter: Finding answers with rapid exome sequencing.

Powis Z et al.

Molecular Genetics & Genomic Medicine, 2020

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

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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."