Varaico: Literature-Extracted Genetic Variants

Gene:IFT140
Variant:p.S190N
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IFT140

NM_014714.4:p.S190N

Associated Papers

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.

Helm BM et al.

Human Genomics, 2017

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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."