Associated Papers
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
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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