Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient

Expanded carrier screening (ECS) has become an increasingly common technique to assess the genetic risks of individuals in the prenatal or preconception period. Unexpected variants unrelated to referral are being increasingly detected in asymptomatic individuals through ECS. In this study, we report...

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Detalles Bibliográficos
Autores principales: Bai, Ying, Liu, Ju, Xu, Jinghan, Sun, Yue, Li, Jingjing, Gao, Yong, Liu, Lina, Jia, Cangcang, Kong, Xiangdong, Wang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9125615/
https://www.ncbi.nlm.nih.gov/pubmed/35615378
http://dx.doi.org/10.3389/fgene.2022.878806

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9125615/
https://www.ncbi.nlm.nih.gov/pubmed/35615378
http://dx.doi.org/10.3389/fgene.2022.878806

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