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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMG1

Variant:p.K1010_V1011Splc

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SMG1

NM_015092.5:p.K1010_V1011Splc

hg38:chr16:18868522 C>T

Associated Papers

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

Dall'Osso C et al.

Haematologica, 2008

18728029 (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."