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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC82

Variant:p.F61delFs

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CCDC82

NM_024725.4:p.F61delFs

hg38:chr11:96384564 CA>C

Associated Papers

CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features.

Bauer G et al.

Clinical Genetics, 2022

35373332 (PubMed )

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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."