Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.A79_H82delFs
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IDUA

NM_000203.5:p.A79_H82delFs

Associated Papers

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

Mkaouar R et al.

Frontiers in Genetics, 2024

38711914 (PubMed )
Supplement: Table2.DOCX

Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Gragnaniello V et al.

Molecular Genetics and Metabolism Reports, 2022

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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."