Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.D471delFs
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CDKL5

NM_001323289.2:p.D471delFs

Associated Papers

Efficient high-precision homology-directed repair-dependent genome editing by HDRobust.

Riesenberg S et al.

Nature Methods, 2023

Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).

Chen PF et al.

Stem Cell Research, 2021

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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."