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Identity-by-descent analysis of CMTX3 links three families through a common founder

A large 78 kb insertion from chromosome 8q24.3 into Xq27.1 was identified as the cause of CMTX3 in three families of European descent from Australia (CMT193, CMT180) and New Zealand/United Kingdom (CMT623). Using the relatedness tool XIBD to perform genome-wide identity-by-descent (IBD) analysis on...

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Detalles Bibliográficos
Autores principales:	Henden, Lyndal, Grosz, Bianca R., Ellis, Melina, Nicholson, Garth A., Kennerson, Marina, Williams, Kelly L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Nature Singapore 2022
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812773/ https://www.ncbi.nlm.nih.gov/pubmed/36100665 http://dx.doi.org/10.1038/s10038-022-01078-1

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