...NF1 were detected at the 17q11.2 locus. A novel homozygous nonsense variant (c.753G > A, p.Trp251Ter) in the VSX2 gene w...
...NF1), and Sturge-Weber syndrome (SWS), and others. The incidence of epilepsy, a core clinical manifestation, is signific...
...NF1, SUFU, TSC1, PTCH2), Wilms tumor (WT1, REST), non-Hodgkin lymphoma (PMS2), and soft tissue sarcomas (SDHB, DICER1, T...
...NF1. For clinically actionable mutations, the concordance rate between PE-cfDNA and tumor tissue is 87%. Eleven patients...
...NF1, and RAD51D, were observed in 7.4%. Patients who completed the questionnaire showed decreased concerns about the ris...
...NF1 and NF2 (neurofibromatosis), and DMD (Duchenne muscular dystrophy). Such chain-truncating mutations can be detected ...
...NF1 sequence was found most commonly, whereas the Sp1 binding site was the most common for both CPML patients and HIV-1 ...
...NF1), and angiogenesis-related genes vascular endothelial growth factor-B (VEGF-B) and placental growth factor (PGF) was...
...NF1-related PCC samples exhibited both adrenaline and noradrenaline secretion. In the von Hippel-Lindau disease-related ...
...NF1, VHL, SDHD, SDHB, SDHC, SDHA, SDHAF2, KIF1B, TMEM127, EGLN1 and MAX. Target capture of five exome capture platforms ...
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