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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPAG5

Variant:p.I105delFs

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SPAG5

NM_006461.4:p.I105delFs

hg38:chr17:28592928 GA>G

Associated Papers

Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.

Gregor A et al.

Human Mutation, 2002

11857754 (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."