Varaico: Literature-Extracted Genetic Variants

Gene:CCDC33
Variant:p.R186W
Back to variants list

CCDC33

NM_025055.5:p.R186W

Associated Papers

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.

Thal DR et al.

International Journal of Molecular Sciences, 2015

26506339 (PubMed )
Supplement: ijms-16-25050-s001.zip › ijms-101073-Tables_S1_and_S2.xls › Table_S2

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 121.83
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."