Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S1
Variant:p.G120G
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BLOC1S1

NM_001487.4:p.G120G

Associated Papers

Regulation of Blos1 by IRE1 prevents the accumulation of Huntingtin protein aggregates.

Bae D et al.

Molecular Biology of the Cell, 2022

Degradation of Blos1 mRNA by IRE1 repositions lysosomes and protects cells from stress.

Bae D et al.

The Journal of Cell Biology, 2019

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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."