Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.K414_L415Splc
Back to variants list

HEXB

NM_000521.4:p.K414_L415Splc

Associated Papers

Role of induced pluripotent stem cells in lysosomal storage diseases.

Kido J et al.

Molecular and Cellular Neurosciences, 2020

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation.

Allende ML et al.

Journal of Lipid Research, 2018

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."