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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFT140

Variant:p.Y332fs

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IFT140

NM_014714.4:p.Y332fs

hg38:chr16:1587213 GTA>N

Associated Papers

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.

Oud MM et al.

Cilia, 2018

30479745 (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."