Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.K236_E237Splc
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IDS

NM_000202.8:p.K236_E237Splc

Associated Papers

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Pande S et al.

European Journal of Human Genetics : Ejhg, 2024

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

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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."