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-supp11.xlsx › Appendix_1-table_11
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
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_MOESM4_ESM.pdf
Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.
Montaño A et al.
Journal of Personalized Medicine, 2020
32967112 (PubMed )
Supplement: jpm-10-00137-s001.pdf
Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.
Liu X et al.
Ebiomedicine, 2019
30857943 (PubMed )
Supplement: mmc3.xlsx › mutations_detected_in_cfDNA
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