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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UPF2

Variant:p.L225_C226delFs

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UPF2

NM_015542.4:p.L225_C226delFs

hg38:chr10:12029212 GCAGA>G

Associated Papers

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.

Romano F et al.

American Journal of Medical Genetics. Part A, 2024

38318947 (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."