Varaico: Literature-Extracted Genetic Variants

Gene:CFAP20
Variant:p.R113W
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CFAP20

NM_013242.3:p.R113W

Associated Papers

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.

Chrystal PW et al.

Nature Communications, 2022

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

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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."