Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.G418R
Back to variants list

HEXB

NM_000521.4:p.G418R

Associated Papers

Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.

Cohen-Tannoudji M et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 1995

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."