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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFAP298

Variant:p.Y264_L265delFs

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CFAP298

NM_021254.4:p.Y264_L265delFs

hg38:chr21:32601940 TTAAA>T

Associated Papers

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

Austin-Tse C et al.

American Journal of Human Genetics, 2013

24094744 (PubMed )

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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."