Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.C534_V537del4
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HEXB

NM_000521.4:p.C534_V537del4

Associated Papers

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Godbole NP et al.

Annals of Clinical and Translational Neurology, 2024

38009419 (PubMed )
Supplement: ACN3-11-207-s001.docx

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.

Gaignard P et al.

Gene, 2013

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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."