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

ObjectiveThe 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.MethodsWhole-exome sequencing was performed for the proband. Alphafold3 and PyMOL software were used to determ...

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Hlavní autoři:	Juyi Li, Huihui Mao, Lu Li, Xiufang Wang, Guohua Yang, Jiguo Yu, Aiping Deng, Jifa Hu, Dan Wu, Peiyan Zhan, Yingbo Li
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-07-01
Edice:	Frontiers in Medicine
Témata:	genetics minigene MYO7A Usher syndrome whole-exome sequencing
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fmed.2026.1836745/full
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