Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of PLAA.
Dai C et al.
Clinical Genetics, 2019
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA et al.
American Journal of Human Genetics, 2017
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