Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.K324_V325Splc
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IDUA

NM_000203.5:p.K324_V325Splc

Associated Papers

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Jahic A et al.

Molecular Genetics & Genomic Medicine, 2019

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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."