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
C1-linker region of PARG1 RhoGAP promotes the catalytic recognition fold of RhoA substrate.
Kouchi Z et al.
Plos One, 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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1
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
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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