Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.T167T
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PRRT2

NM_145239.3:p.T167T

Associated Papers

A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.

Baldi S et al.

Behavioural Neurology, 2020

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

Pavone P et al.

Italian Journal of Pediatrics, 2019

Infantile spasms caused by NEXMIF mutation: A case report and literature review.

Zhong L et al.

Applied Neuropsychology. Child, 0

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