Varaico: Literature-Extracted Genetic Variants

Gene:CHN1
Variant:p.Y221H
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CHN1

NM_001822.7:p.Y221H

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

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.

Angelini C et al.

European Journal of Medical Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."