Associated Papers
Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.
Cristea I et al.
European Journal of Human Genetics : Ejhg, 2025
Case report: Primary familial brain calcification associated with a rare PDGFRB variant, coexisting with nontraumatic osteonecrosis of the femoral head.
Cao C et al.
Frontiers in Neuroscience, 2024
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.
Lenglez S et al.
Human Molecular Genetics, 2022
An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.
Lin J et al.
Frontiers in Immunology, 2022
36505399 (PubMed )
Supplement: Table_2.xlsx › vars
A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
Mathorne SW et al.
Bmc Neurology, 2019
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM et al.
European Journal of Human Genetics : Ejhg, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_Kinase_
Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.
Lindqvist CM et al.
Oncotarget, 2016
27590521 (PubMed )
Supplement: oncotarget-07-64071-s002.xlsx › Table_S4_diagnostic_mutations
A growing family: adding mutated Erbb4 as a novel cancer target.
Rudloff U et al.
Cell Cycle (georgetown, Tex.), 2010
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