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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CC2D2A

Variant:p.K358_P359insFs

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CC2D2A

NM_001378615.1:p.K358_P359insFs

hg38:chr4:15516680 A>AGC

Associated Papers

IQCB1 mutations in patients with leber congenital amaurosis.

Estrada-Cuzcano A et al.

Investigative Ophthalmology & Visual Science, 2011

20881296 (PubMed )

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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."