Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.K1552fs
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CEP290

NM_025114.4:p.K1552fs

Associated Papers

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Ramsbottom SA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

31879347 (PubMed )
Supplement: pnas.1912602117.sapp.pdf

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."