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
The Rac-GAP alpha2-Chimaerin Signals via CRMP2 and Stathmins in the Development of the Ocular Motor System.
Carretero-Rodriguez L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
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
α2-Chimaerin regulates a key axon guidance transition during development of the oculomotor projection.
Clark C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
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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