Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss

The 2018 Hearing Loss Expert Panel (HL-EP)-specific guidelines specified from the universal 2015 ACMG/AMP guidelines are proposed to be used in genetic HL, which prompted this study. A genetic HL cohort comprising 135 unrelated probands with available exome sequencing data was established. Overall,...

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Detalles Bibliográficos
Autores principales: Kim, So Young, Kim, Bong Jik, Oh, Doo Yi, Han, Jin Hee, Yi, Nayoung, Kim, Namju Justin, Park, Moo Kyun, Keum, Changwon, Seo, Go Hun, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304357/
https://www.ncbi.nlm.nih.gov/pubmed/35864128
http://dx.doi.org/10.1038/s41598-022-16661-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304357/
https://www.ncbi.nlm.nih.gov/pubmed/35864128
http://dx.doi.org/10.1038/s41598-022-16661-x

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