Varaico: Literature-Extracted Genetic Variants

Gene:CLN3
Variant:p.G419A
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CLN3

NM_001042432.2:p.G419A

Associated Papers

AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif.

Kyttälä A et al.

The Journal of Biological Chemistry, 2005

Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.

Kyttälä A et al.

Molecular Biology of the Cell, 2004

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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."