Varaico: Literature-Extracted Genetic Variants

Gene:RILP
Variant:p.G284S
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RILP

NM_031430.3:p.G284S

Associated Papers

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.

Napolitano F et al.

International Journal of Molecular Sciences, 2021

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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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."