New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

Next-generation sequencing (NGS) allows the detection of mutations in inherited genetic diseases, like the Charcot-Marie-Tooth disease (CMT) which is the most common hereditary peripheral neuropathy. The majority of mutations detected by NGS are single nucleotide variants (SNVs) or small indels, whi...

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Detalles Bibliográficos
Autores principales: Pyromali, Ioanna, Perani, Alexandre, Nizou, Angélique, Benslimane, Nesrine, Derouault, Paco, Bourthoumieu, Sylvie, Fradin, Mélanie, Sole, Guilhem, Duval, Fanny, Gomes, Constantin, Favreau, Frédéric, Sturtz, Franck, Magdelaine, Corinne, Lia, Anne-Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8355829/
https://www.ncbi.nlm.nih.gov/pubmed/34429846
http://dx.doi.org/10.1016/j.csbj.2021.07.037

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