Varaico: Literature-Extracted Genetic Variants

Gene:CHN1
Variant:p.Y148F
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CHN1

NM_001822.7:p.Y148F

Associated Papers

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

Expansion of the CHN1 strabismus phenotype.

Miyake N et al.

Investigative Ophthalmology & Visual Science, 2011

Role of Abelson Helper Integration Site 1, Nebulin, and Paired Box 3 Genes in the Development of Nonsyndromic Strabismus in a Series of Iranian Families: Sequence Analysis and Systematic Review of the Genetics of Nonsyndromic Strabismus.

Rahpeyma M et al.

Journal of Current Ophthalmology, 0

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