Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2A
Variant:p.L505delFs
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CC2D2A

NM_001378615.1:p.L505delFs

Associated Papers

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s006.xlsx › Table_S6
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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."