Varaico: Literature-Extracted Genetic Variants

Gene:CCT4
Variant:p.C450Y
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CCT4

NM_006430.4:p.C450Y

Associated Papers

Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis.

Minegishi Y et al.

Investigative Ophthalmology & Visual Science, 2018

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

Minegishi Y et al.

Scientific Reports, 2016

Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy.

Sergeeva OA et al.

The Journal of Biological Chemistry, 2014

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.

Lee MJ et al.

Human Molecular Genetics, 2003

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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."