Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P216del1
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PRRT2

NM_145239.3:p.P216del1

Associated Papers

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability.

Akkus N et al.

Molecular Genetics & Genomic Medicine, 2026

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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."