Associated Papers
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
40238651 (PubMed )
Supplement: elife-95347-supp10.xlsx › Appendix_1-table_10
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Biorxiv : the Preprint Server for Biology, 2025
38234851 (PubMed )
Supplement: media-11.pdf
Mutational and transcriptional profiling of cuproptosis-associated genes in amyotrophic lateral sclerosis.
He D et al.
Genes & Diseases, 2025
39314515 (PubMed )
Supplement: mmc1.xlsx › Table_S4
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_primary_tumor
Papillary Thyroid Carcinoma: Correlation Between Molecular and Clinical Features.
Wang Q et al.
Molecular Diagnosis & Therapy, 2024
38896179 (PubMed )
Supplement: 40291_2024_721_MOESM1_ESM.xlsx › SNV
Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.
Jikuya R et al.
Ebiomedicine, 2023
37182269 (PubMed )
Supplement: mmc4.xlsx › Candidate_germline_variants
Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.
Wen H et al.
Bmc Cancer, 2022
35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
34521998 (PubMed )
Supplement: 41431_2021_959_MOESM3_ESM.pdf
Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data.
Choi YM et al.
Cancers, 2021
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.
Pastorino L et al.
Pigment Cell & Melanoma Research, 2008
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005
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