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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP2U1

Variant:p.H213fs

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CYP2U1

NM_183075.3:p.H213fs

hg38:chr4:107945116 CAC>N

Associated Papers

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.

Ahn JH et al.

Npj Genomic Medicine, 2024

39609445 (PubMed )

Supplement: 41525_2024_449_MOESM3_ESM.xlsx › Table_S2

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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."