Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.P364P
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IDS

NM_000202.8:p.P364P

Associated Papers

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.

Zanetti A et al.

Human Genomics, 2024

39617925 (PubMed )
Supplement: 40246_2024_701_MOESM1_ESM.xlsx › TableS3_UniquePointVariants

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.

Grodecká L et al.

Journal of Molecular Medicine (berlin, Germany), 2017

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