Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.
Müller T et al.
Gut, 2016
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
Smith A et al.
European Journal of Human Genetics : Ejhg, 2015
PaPI: pseudo amino acid composition to score human protein-coding variants.
Limongelli I et al.
Bmc Bioinformatics, 2015
Guanylate cyclase-C receptor activation: unexpected biology.
Brierley SM
Current Opinion in Pharmacology, 2012
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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