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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDS

Variant:p.Q417_P425del0

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IDS

NM_000202.8:p.Q417_P425del0

hg38:chrX:149483123 AAGGAACGGGGCAGCGAGGTGGAACCTG>A

Associated Papers

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Kadali S et al.

Molecular and Cellular Biochemistry, 2019

30903511 (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."