Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.K1004insFs
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CEP290

NM_025114.4:p.K1004insFs

Associated Papers

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Halbritter J et al.

Human 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."