Varaico: Literature-Extracted Genetic Variants

Gene:CCDC63
Variant:p.R309W
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CCDC63

NM_152591.3:p.R309W

Associated Papers

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Bizet AA et al.

Nature Communications, 2015

26487268 (PubMed )
Supplement: ncomms9666-s1.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 702.278
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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."