Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without a genetic diagnosis after routine genetic testin...

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Detalles Bibliográficos
Autores principales: Xie, Zhiying, Sun, Chengyue, Zhang, Siwen, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Acharya, Anushree, Cornejo‐Sanchez, Diana M, Wang, Gao, Zhang, Wei, Schrauwen, Isabelle, Leal, Suzanne M., Wang, Zhaoxia, Yuan, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545597/
https://www.ncbi.nlm.nih.gov/pubmed/32951359
http://dx.doi.org/10.1002/acn3.51201

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