Varaico: Literature-Extracted Genetic Variants

Gene:AUP1
Variant:p.L43L
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AUP1

NM_181575.5:p.L43L

Associated Papers

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_009_N

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs
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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."