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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H6PD

Variant:p.I156V

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H6PD

NM_004285.4:p.I156V

hg38:chr1:9245400 A>G

Associated Papers

Analytical Validation of a Genomic Newborn Screening Workflow.

Hovhannesyan K et al.

International Journal of Neonatal Screening, 2025

41133703 (PubMed )

Supplement: IJNS-11-00091-s001.zip › IJNS-3792665-supplementary.pdf

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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."