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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRODH

Variant:p.R453fs

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PRODH

NM_016335.6:p.R453fs

hg38:chr22:18918386 ACG>N

Associated Papers

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.

Tang C et al.

International Journal of Neonatal Screening, 2024

38651393 (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."