Varaico: Literature-Extracted Genetic Variants

Gene:CHN1
Variant:p.F213V
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CHN1

NM_001822.7:p.F213V

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

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

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