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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCT2

Variant:p.T400A

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CCT2

NM_006431.3:p.T400A

hg38:chr12:69597733 A>G

Associated Papers

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.

Minegishi Y et al.

Scientific Reports, 2016

27645772 (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."