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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP2R5D

Variant:p.L100_L103del4

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PPP2R5D

NM_006245.4:p.L100_L103del4

hg38:chr6:43006654 GCTGCAGAAGCTT>G

Associated Papers

Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.

Ambrose A et al.

Neurology. Genetics, 2025

39810752 (PubMed )

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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."