Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Etiology and clinical features of Han Chinese patients with Duane retraction syndrome.
Huang L et al.
Frontiers in Genetics, 2025
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.
Zhang R et al.
Journal of Human Genetics, 2024
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.
Manso-Bazús C et al.
Frontiers in Genetics, 2024
Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
Zhou TC et al.
Scientific Reports, 2020
CHN1 gene mutation analysis in patients with Duane retraction syndrome.
Biler ED et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2017
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
21898656 (PubMed )
Supplement: supplement_1.pdf
Expansion of the CHN1 strabismus phenotype.
Miyake N et al.
Investigative Ophthalmology & Visual Science, 2011
Two novel CHN1 mutations in 2 families with Duane retraction syndrome.
Chan WM et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2011
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N et al.
Science (new York, N.y.), 2008
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