Varaico: Literature-Extracted Genetic Variants

Gene:IFT80
Variant:p.S134*
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IFT80

NM_020800.3:p.S134*

Associated Papers

Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma.

Ono R et al.

Cancer Science, 2021

33934450 (PubMed )
Supplement: CAS-112-2921-s001.xlsx › Dataset_S1

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Nagaoka S et al.

Human Genome Variation, 2021

33452237 (PubMed )
Supplement: 41439_2020_133_MOESM1_ESM.xlsx › Sheet1
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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."