Associated Papers
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
40060668 (PubMed )
Supplement: media-2.xlsx › abundance_map_scores_LLRps
Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.
Gromicho M et al.
Journal of Neurology, 2020
Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.
Guissart C et al.
Scientific Reports, 2020
33244158 (PubMed )
Supplement: 41598_2020_77716_MOESM1_ESM.xlsx › Supplementary_Table_S1
Detection of dysregulated protein-association networks by high-throughput proteomics predicts cancer vulnerabilities.
Lapek JD et al.
Nature Biotechnology, 2017
28892078 (PubMed )
Supplement: NIHMS73743-supplement-Supplementary_tables.zip › Supplementary_Table_10_Proteins_with_Nonsense_Mutations_26_Breast_Cancer_Cell_Lines.xlsx › Sheet2
Exome sequencing in dementia with Lewy bodies.
Keogh MJ et al.
Translational Psychiatry, 2016
26836416 (PubMed )
Supplement: tp2015220x1.docx
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
Genetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases.
Migliore L et al.
Mutation Research, 2009
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