Associated Papers
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Supplement: 41598_2025_6096_MOESM1_ESM.xlsx › S5
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1
Polymorphic pseudogenes in the human genome - a comprehensive assessment.
Lopes-Marques M et al.
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39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1
A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.
Luo R et al.
Signal Transduction and Targeted Therapy, 2021
Metabolites downstream of predicted loss-of-function variants inform relationship to disease.
Li M et al.
Molecular Genetics and Metabolism, 2019
Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.
Chu G et al.
Cancer Medicine, 2019
30977266 (PubMed )
Supplement: CAM4-8-1996-s001.pdf
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.
Emdin CA et al.
Nature Communications, 2018
29691411 (PubMed )
Supplement: 41467_2018_3911_MOESM1_ESM.pdf
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