Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.P423insFs
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CFAP47

NM_001304548.2:p.P423insFs

Associated Papers

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

Hong N et al.

Journal of Zhejiang University. Science. B, 2014

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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."