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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDUA

Variant:p.G646delFs

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IDUA

NM_000203.5:p.G646delFs

hg38:chr4:1004366 AG>A

Associated Papers

Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report.

Alharthi AS et al.

Neurology International, 2025

41441225 (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."