Varaico: Literature-Extracted Genetic Variants

Gene:PLPPR3
Variant:p.Q413Q
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PLPPR3

NM_001270366.2:p.Q413Q

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."