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 - Matthews Am, A. M. Matthews, M. Tarailo-Graovac, Price Em, E. M. Price, I. Blydt-Hansen, A. Ghani, Drögemöller Bi, B. I. Drögemöller, C. D. van Karnebeek, W. P. Robinson, Robinson Wp, Ross Cj, C. J. Ross, W. W. Wasserman - Dissemin

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Elsevier, European Journal of Medical Genetics, 10(60), p. 548-552

DOI: 10.1016/j.ejmg.2017.07.015

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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

Journal article published in 2017 by Matthews Am, A. M. Matthews

ORCID

, M. Tarailo-Graovac, Price Em, E. M. Price, I. Blydt-Hansen, A. Ghani, Drögemöller Bi, B. I. Drögemöller

ORCID

, C. D. van Karnebeek, W. P. Robinson, Robinson Wp, Ross Cj, C. J. Ross, W. W. Wasserman

ORCID

and other authors.

This paper was not found in any repository, but could be made available legally by the author.

This paper was not found in any repository, but could be made available legally by the author.

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