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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNAP

Variant:p.K4Fs

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DYNAP

NM_173629.3:p.K4Fs

hg38:chr18:54591294 G>CCA

Associated Papers

The First Year Experience of Newborn Screening for Pompe Disease in California.

Tang H et al.

International Journal of Neonatal Screening, 2020

33073007 (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."