Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K54E
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CDKL5

NM_001323289.2:p.K54E

Associated Papers

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Fang X et al.

Molecular Genetics & Genomic Medicine, 2022

35318820 (PubMed )
Supplement: MGG3-10-e1917-s002.xlsx › Sheet1
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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."