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Author

Jiguo Yu

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Open access Jul 2026

Compound heterozygous splicing and missense variants in MYO7A in a Chinese patient with Usher syndrome

Objective The objectives of the present study were to identify the genetic variations in a Chinese patient with Usher syndrome and to determine the pathogenicity of the identified variations. Methods Whole-exome sequencing was performed for the proband. Alphafold3 and PyMOL software were used to determine the impact of...

Juyi Li, Huihui Mao, Lu Li et al. · 0 citations

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