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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CWC27

Variant:p.R90delFs

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CWC27

NM_005869.4:p.R90delFs

hg38:chr5:64783851 CG>C

Associated Papers

A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.

Li H et al.

Ophthalmic Genetics, 2024

38956876 (PubMed )

Supplement: supplement_1.pdf

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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."