Tag : Variant

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Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

Ling, H; Gelpi, E; Davey, K; Jaunmuktane, Z; Mok, KY; Jabbari, E; Simone, R; … Revesz, T; + view all Ling, H; Gelpi, E; Davey,...

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epileps…...

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