Varaico: Literature-Extracted Genetic Variants

Gene:IFT140
Variant:p.R280W
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IFT140

NM_014714.4:p.R280W

Associated Papers

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Xu M et al.

Human Genetics, 2015

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.

Miller KA et al.

Plos Genetics, 2013

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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."