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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFT140

Variant:p.V246Fs

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IFT140

NM_014714.4:p.V246Fs

hg38:chr16:1589678 A>GGG

Associated Papers

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Geoffroy V et al.

Human Mutation, 2018

29688594 (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."