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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
Allison Matthews
,
Maja Tarailo-Graovac
,
Magda Price
,
Ingrid Blydt-Hansen
,
Aisha Ghani
,
Britt Drögemöller
,
Wendy Robinson
,
Colin Ross
,
Wyeth Wasserman
,
Hal Siden
,
Clara van Karnebeek
August 2017
DOI
Type
Journal article
Publication
Eur J Med Genet
Cite
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