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Frameshift mutation

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

Lorena Martin-Morales, Paula Rofes, [ ... ], Trinidad Caldes

Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, [ ... ], Keyur P. Patel

Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, [ ... ], Jun Wang

Differences in the viral genome between HPV-positive cervical and oropharyngeal cancer

Bailey A. LeConte, Peter Szaniszlo, [ ... ], Vicente A. Resto

Genetic heterogeneity and mutational signature in Chinese Epstein-Barr virus-positive diffuse large B-cell lymphoma

Fang Liu, Zhe Wang, [ ... ], Huilan Rao

BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study

Artur Kowalik, Monika Siołek, [ ... ], Stanisław Góźdź

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Dhandayuthapani Sudha, Srividya Neriyanuri, [ ... ], Jayamuruga Pandian Arunachalam

ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations

Hongyi Zhou, Mu Gao, Jeffrey Skolnick

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Hui Huang, Yanhua Chen, [ ... ], Xin Yi

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

Liping Yu, Junqing Zhang, [ ... ], Qun He

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model

Tilman Jobst-Schwan, Johanna Magdalena Schmidt, [ ... ], Friedhelm Hildebrandt

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Ulrik Stoltze, Anne-Bine Skytte, [ ... ], Karin Wadt

Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression

Anne Bruun Krøigård, Martin Jakob Larsen, [ ... ], Torben A. Kruse

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