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Mutational spectrum in a Chinese cohort with congenital cataracts

BACKGROUND: To identify the mutational spectrum in a Chinese cohort with congenital cataracts. METHODS: Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel‐based next‐generation sequencing, then cla...

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Detalles Bibliográficos
Autores principales: Liu, Hong‐Li, Zhang, Dao‐Wei, Hu, Fang‐Yuan, Xu, Ping, Zhang, Sheng‐Hai, Wu, Ji‐Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496047/
https://www.ncbi.nlm.nih.gov/pubmed/37337769
http://dx.doi.org/10.1002/mgg3.2196