Associated Papers
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S et al.
Nature Communications, 2024
38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
Ewing AD et al.
American Journal of Medical Genetics. Part A, 2021
33960642 (PubMed )
Supplement: AJMG-185-2070-s002.xlsx › Table_S3_Hedgehog_gene_variants
Genetic landscape and ligand-dependent activation of sonic hedgehog-Gli1 signaling in chordomas: a novel therapeutic target.
Yang C et al.
Oncogene, 2020
Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions.
Magic M et al.
Clinical Oral Investigations, 2019
Mutational analysis of hedgehog signaling pathway genes in human malignant mesothelioma.
Lim CB et al.
Plos One, 2013
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