Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.Q1871fs
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CEP290

NM_025114.4:p.Q1871fs

Associated Papers

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Coppieters F et al.

Human Mutation, 2010

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Tallila J et al.

Human Mutation, 2009

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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."