Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort
Spectrum of GABAA receptor variants in epilepsy.
Maljevic S et al.
Current Opinion in Neurology, 2019
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P et al.
The Lancet. Neurology, 2018
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