Varaico: Literature-Extracted Genetic Variants

Gene:IFT122
Variant:p.M621R
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IFT122

NM_052989.3:p.M621R

Associated Papers

Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.

Silveira KC et al.

American Journal of Medical Genetics. Part A, 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."