Varaico: Literature-Extracted Genetic Variants

Gene:PLCB1
Variant:p.P1215S
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PLCB1

NM_015192.4:p.P1215S

Associated Papers

Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.

Tozkir H et al.

Genes, 2025

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2d
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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."