Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.R100Splc
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HEXB

NM_000521.4:p.R100Splc

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 › TableS4
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