Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients

When medical genetic syndromes are influenced by allelic hierarchies, mutant alleles have distinct effects on clinical phenotypes. Genotype–phenotype correlations for Usher syndrome type 2 (USH2) suggest that the USH2A gene exhibits an allelic hierarchy. Here, we analyzed the phenotypes and genotype...

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Detalles Bibliográficos
Autores principales: Nam, Dong Woo, Song, Yong Keun, Kim, Jeong Hun, Lee, Eun Kyoung, Park, Kyu Hyung, Cha, JuHyuen, Choi, Byung Yoon, Lee, Jun Ho, Oh, Seung Ha, Jo, Dong Hyun, Lee, Sang-Yeon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658080/
https://www.ncbi.nlm.nih.gov/pubmed/37981655
http://dx.doi.org/10.1038/s41598-023-47166-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658080/
https://www.ncbi.nlm.nih.gov/pubmed/37981655
http://dx.doi.org/10.1038/s41598-023-47166-w

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