Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.D523Y
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CFAP57

NM_001378189.1:p.D523Y

Associated Papers

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.

Rorick NK et al.

American Journal of Medical Genetics. Part A, 2011

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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."