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1.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33106617
2.
ATP8A2-related disorders as recessive cerebellar ataxia.
J Neurol
; 267(1): 203-213, 2020 Jan.
Article
in English
| MEDLINE | ID: mdl-31612321
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