Varaico: Literature-Extracted Genetic Variants

Gene:CDKL2
Variant:p.E433E
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CDKL2

NM_001330724.2:p.E433E

Associated Papers

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

Tanwar M et al.

Molecular Vision, 2009

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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."