Varaico: Literature-Extracted Genetic Variants

Gene:SLC31A1
Variant:p.R90*
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SLC31A1

NM_001859.4:p.R90*

Associated Papers

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Juliá-Palacios N et al.

Brain Communications, 2025

41040850 (PubMed )
Supplement: fcaf348_supplementary_data.zip › Supplementary_Tables_1-6.xlsx › Suppl._Table2

Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

Wang N et al.

Human Mutation, 2017

Accounting for Protein Subcellular Localization: A Compartmental Map of the Rat Liver Proteome.

Jadot M et al.

Molecular & Cellular Proteomics : Mcp, 2017

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Reinhold WC et al.

Plos One, 2014

25032700 (PubMed )
Supplement: pone.0101670.s001.xlsx › Supplementary_Table_1
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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."