Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.M1K
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CEP78

NM_001330691.3:p.M1K

Associated Papers

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.

Ascari G et al.

Frontiers in Cell and Developmental Biology, 2021

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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."