Varaico: Literature-Extracted Genetic Variants

Gene:IFT80
Variant:p.K460K
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IFT80

NM_020800.3:p.K460K

Associated Papers

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Bizaoui V et al.

American Journal of Medical Genetics. Part A, 2019

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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."