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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDS

Variant:p.S50_K57del0

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IDS

NM_000202.8:p.S50_K57del0

hg38:chrX:149504227 TTATCCCCATAACAGCCCAGGG>T

Associated Papers

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Pollard LM et al.

Journal of Inherited Metabolic Disease, 2013

22976768 (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."