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1.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Am J Hum Genet
; 95(2): 143-61, 2014 Aug 07.
Article
in English
| MEDLINE | ID: mdl-25065914
2.
Digital necrosis in an infant with severe spinal muscular atrophy.
Neurol Genet
; 5(5): e361, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-31742229
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