Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2A
Variant:p.L684I
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CC2D2A

NM_001378615.1:p.L684I

Associated Papers

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

Bachmann-Gagescu R et al.

Journal of Medical Genetics, 2012

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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."