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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIPA

Variant:p.K2insFs

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LIPA

NM_000235.4:p.K2insFs

hg38:chr10:89247641 A>AT

Associated Papers

Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.

Dardis A et al.

Genes, 2018

29415500 (PubMed )

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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."