Associated Papers
Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants.
Alizadeh P et al.
Practical Laboratory Medicine, 2025
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
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Further delineation of PIGB-related early infantile epileptic encephalopathy.
Schiavoni S et al.
European Journal of Medical Genetics, 2021
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Murakami Y et al.
American Journal of Human Genetics, 2019
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