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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL14A1

Variant:p.D219N

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COL14A1

NM_021110.4:p.D219N

hg38:chr8:120197873 G>A

Associated Papers

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

Burton BK et al.

International Journal of Neonatal Screening, 2020

33073003 (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."