Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.E228Q
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CFP

NM_001145252.3:p.E228Q

Associated Papers

Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.

Lee J et al.

Autophagy, 2023

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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."