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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| Автори: | , , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Frontiers Media S.A.
2026-07-01
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| Серія: | Frontiers in Medicine |
| Предмети: | |
| Онлайн доступ: | https://www.frontiersin.org/articles/10.3389/fmed.2026.1836745/full |
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