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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.D356V

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GAA

NM_000152.5:p.D356V

hg38:chr17:80108401 A>T

Associated Papers

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.

Trinidad M et al.

Genome Biology, 2023

37480112 (PubMed )

Supplement: 13059_2023_3001_MOESM1_ESM.xlsx › Table_S1

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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."