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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDKL5

Variant:p.G228R

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CDKL5

NM_001323289.2:p.G228R

hg38:chrX:18588081 G>C

Associated Papers

Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.

Pepe G et al.

Genes, 2024

38540345 (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."