Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5E
Variant:p.E191K
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PPP2R5E

NM_006246.5:p.E191K

Associated Papers

PPP2R5E: New gene potentially involved in specific learning disorders and myopathy.

Musumeci A et al.

Gene, 2025

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cannizzaro IR et al.

International Journal of Molecular Sciences, 2024

39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP
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