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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMG8

Variant:p.R225_V226delFs

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SMG8

NM_018149.7:p.R225_V226delFs

hg38:chr17:59210724 CGAGT>C

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."