Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.R124Splc
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HGSNAT

NM_152419.3:p.R124Splc

Associated Papers

Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.

Sudrié-Arnaud B et al.

Diagnostics (basel, Switzerland), 2021

33673364 (PubMed )
Supplement: diagnostics-11-00294-s001.xlsx › TableS1
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