Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.W460R
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HEXB

NM_000521.4:p.W460R

Associated Papers

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.

Shibuya M et al.

Brain & Development, 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."