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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTB

Variant:p.P258_E259insFs

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ACTB

NM_001101.5:p.P258_E259insFs

hg38:chr7:5528309 A>AG

Associated Papers

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

Xie Y et al.

Orphanet Journal of Rare Diseases, 2024

39719609 (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."