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Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region

Intragenic segmental duplication regions are potential hotspots for recurrent copy number variation and possible pathogenic aberrations. Two large sarcomeric genes, nebulin and titin, both contain such segmental duplication regions. Using our custom Comparative Genomic Hybridisation array, we have p...

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Detalles Bibliográficos
Autores principales:	Sagath, Lydia, Lehtokari, Vilma-Lotta, Pelin, Katarina, Kiiski, Kirsi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9142044/ https://www.ncbi.nlm.nih.gov/pubmed/35627290 http://dx.doi.org/10.3390/genes13050905

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