Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.I341_Q345delFs
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DSPP

NM_014208.3:p.I341_Q345delFs

Associated Papers

Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia.

Liu Y et al.

Iscience, 2022

36060063 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.

Granzow M et al.

Molecular and Cellular Probes, 2015

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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."