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  A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
 
 
Title: A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
Author: Matthews, A.M.
Tarailo-Graovac, M.
Price, E.M.
Blydt-Hansen, I.
Ghani, A.
Drögemöller, B.I.
Robinson, W.P.
Ross, C.J.
Wasserman, W.W.
Siden, H.
van Karnebeek, C.D.
Appeared in: European journal of medical genetics
Paging: Volume 60 (2017) nr. 10 pages 5 p.
Year: 2017
Contents:
Publisher: Elsevier Masson SAS
Source file: Elektronische Wetenschappelijke Tijdschriften
 
 

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