Associated Papers
Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.
Kökcü Karadağ Şİ et al.
Scandinavian Journal of Immunology, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
40692796 (PubMed )
Supplement: Table1.xlsx › Foglio1
Rosai-Dorfman-Destombes disease in adults: a single center experience.
Leung E et al.
Annals of Hematology, 2024
Evolutionary history of MEK1 illuminates the nature of deleterious mutations.
Andrianova EP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37579140 (PubMed )
Supplement: pnas.2304184120.sapp.pdf
A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile.
Salmeron-Villalobos J et al.
Blood Advances, 2022
35609565 (PubMed )
Supplement: advancesADV2022007322-suppl1.pdf
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_8.xlsx › Sheet1
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.
Szczawińska-Popłonyk A et al.
Frontiers in Pediatrics, 2022
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
Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.
Williams EA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Protein-structure-guided discovery of functional mutations across 19 cancer types.
Niu B et al.
Nature Genetics, 2016
Select a paper to view details