Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Abstract Objective To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. Methods We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 included 336 genes, which was increased to 464 genes in V...

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Bibliografski detalji

Glavni autori:	Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J. Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen J. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2020-03-01
Serija:	Annals of Clinical and Translational Neurology
Online pristup:	https://doi.org/10.1002/acn3.51002
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