Varaico: Literature-Extracted Genetic Variants

Gene:CEP63
Variant:p.E263_A264Splc
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CEP63

NM_001353108.3:p.E263_A264Splc

Associated Papers

Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.

Pekkola Pacheco N et al.

American Journal of Medical Genetics. Part A, 2023

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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."