A de novo mosaic mutation in SPAST with two novel...

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European Journal of Medical Genetics 2017 / 8

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, 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.
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Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2017.07.015
Date:
August, 2017
File:
PDF, 1.09 MB
english, 2017
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