Associated Papers
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.
Wang Y et al.
Translational Vision Science & Technology, 2023
36735267 (PubMed )
Supplement: tvst-12-2-4_s001.xls › S2-SNVs
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.
The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.
Diplas BH et al.
Nature Communications, 2018
29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
Strom SP et al.
Plos One, 2016
26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants
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