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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
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| Materias: | |
| 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 |