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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDUA

Variant:p.H378_K384insFs

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IDUA

NM_000203.5:p.H378_K384insFs

hg38:chr4:1002429 A>ACGTGCAGCTGTTGCGCAAG

Associated Papers

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate.

Lipiński P et al.

Diagnostics (basel, Switzerland), 2024

39272740 (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."