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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AUH

Variant:p.R87fs

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AUH

NM_001698.3:p.R87fs

hg38:chr9:91361631 TCG>N

Associated Papers

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

Hertzog A et al.

Jimd Reports, 2022

36341175 (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."