Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.T1602M
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CEP290

NM_025114.4:p.T1602M

Associated Papers

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.

Best S et al.

Journal of Medical Genetics, 2022

Meckel syndrome: Clinical and mutation profile in six fetuses.

Radhakrishnan P et al.

Clinical Genetics, 2019

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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."