Varaico: Literature-Extracted Genetic Variants

Gene:CFAP53
Variant:p.R165H
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CFAP53

NM_145020.5:p.R165H

Associated Papers

Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.

Zahid M et al.

Plos One, 2018

29444099 (PubMed )
Supplement: pone.0191605.s014.xlsx › PCDMutationsTGAPatients

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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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."