Varaico: Literature-Extracted Genetic Variants

Gene:CHN1
Variant:p.P141L
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CHN1

NM_001822.7:p.P141L

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

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

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

Two novel CHN1 mutations in 2 families with Duane retraction syndrome.

Chan WM et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2011

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