Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis

Balanced structural variants, such as reciprocal translocations, are sometimes hard to detect with sequencing, especially when the breakpoints are located in repetitive or insufficiently mapped regions of the genome. In such cases, long-range information is required to resolve the rearrangement, ide...

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Detalles Bibliográficos
Autores principales: Eisfeldt, Jesper, Schuy, Jakob, Stattin, Eva-Lena, Kvarnung, Malin, Falk, Anna, Feuk, Lars, Lindstrand, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408972/
https://www.ncbi.nlm.nih.gov/pubmed/36012658
http://dx.doi.org/10.3390/ijms23169392

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408972/
https://www.ncbi.nlm.nih.gov/pubmed/36012658
http://dx.doi.org/10.3390/ijms23169392

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