Varaico: Literature-Extracted Genetic Variants

Gene:IFT88
Variant:p.S74F
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IFT88

NM_006531.5:p.S74F

Associated Papers

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

Romio L et al.

Journal of the American Society of Nephrology : Jasn, 2003

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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."