Varaico: Literature-Extracted Genetic Variants

Gene:CWC27
Variant:p.L167fs
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CWC27

NM_005869.4:p.L167fs

Associated Papers

Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.

Brea-Fernández AJ et al.

Journal of Human Genetics, 2019

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M et al.

American Journal of Human Genetics, 2017

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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."