Associated Papers
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.
Moghimi P et al.
Biochemical Genetics, 2025
Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.
Wei B et al.
Cancer Medicine, 2023
37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4
A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.
Akarsu A et al.
Scandinavian Journal of Immunology, 2022
TP53 mutations and CDKN2A mutations/deletions are highly recurrent molecular alterations in the malignant progression of sinonasal papillomas.
Brown NA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
33203919 (PubMed )
Supplement: NIHMS1641219-supplement-1.xlsx › Supplemental_Table_1
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
32697969 (PubMed )
Supplement: mmc4.xlsx › B__Driver_candidates
Prevalence and characterization of ATM germline mutations in Chinese BRCA1/2-negative breast cancer patients.
Yang Z et al.
Breast Cancer Research and Treatment, 2019
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Nadeu F et al.
Leukemia, 2018
28924241 (PubMed )
Supplement: leu2017291x4.xlsx › Table_S7
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