Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.R679C
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CEP83

NM_016122.3:p.R679C

Associated Papers

Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.

Vintschger E et al.

European Journal of Human Genetics : Ejhg, 2023

36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › VUS_2018_2020

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC02
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