Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.P364L
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GAA

NM_000152.5:p.P364L

Associated Papers

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Chien YH et al.

Orphanet Journal of Rare Diseases, 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."