Associated Papers
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D et al.
Genome Medicine, 2023
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.
Suddaby JS et al.
Psychiatric Genetics, 2019
Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.
Carroll LS et al.
Psychiatric Genetics, 2016
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