Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

Recent advances in Bionano optical mapping (BOM) provide a great insight into the determination of structural variants (SVs), but its utility in identification of clinical likely pathogenic variants needs to be further demonstrated and proved. In a family with two consecutive pregnancies affected wi...

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Detalles Bibliográficos
Autores principales: Chen, Min, Zhang, Min, Qian, Yeqing, Yang, Yanmei, Sun, Yixi, Liu, Bei, Wang, Liya, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7538933/
https://www.ncbi.nlm.nih.gov/pubmed/33083009
http://dx.doi.org/10.1038/s41525-020-0138-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7538933/
https://www.ncbi.nlm.nih.gov/pubmed/33083009
http://dx.doi.org/10.1038/s41525-020-0138-z

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