Associated Papers
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
Liu X et al.
Molecular Biology Reports, 2022
PIGA-related epileptic encephalopathy demonstrating intrafamilial phenotypic heterogeneity.
Perk Yucel P et al.
Acta Neurologica Belgica, 2020
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