Varaico: Literature-Extracted Genetic Variants

Gene:ID1
Variant:p.L79_T82delFs
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ID1

NM_002165.4:p.L79_T82delFs

Associated Papers

Newborn Screening for Pompe Disease.

Sawada T et al.

International Journal of Neonatal Screening, 2020

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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."