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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.P364S

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GAA

NM_000152.5:p.P364S

hg38:chr17:80108503 C>T

Associated Papers

Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.

Li D et al.

Prenatal Diagnosis, 2018

29966168 (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."