Associated Papers
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F et al.
American Journal of Human Genetics, 2024
Prediction of Functional Consequences of Missense Mutations in ANO4 Gene.
Reichhart N et al.
International Journal of Molecular Sciences, 2021
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16
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