Varaico: Literature-Extracted Genetic Variants

Gene:PRAMEF1
Variant:p.V444F
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PRAMEF1

NM_023013.4:p.V444F

Associated Papers

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

Alkhater RA et al.

Annals of Clinical and Translational Neurology, 2018

30564627 (PubMed )
Supplement: ACN3-5-1617-s002.xlsx › SNVs
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