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https://www.selleckchem.com/products/myk-461.html the operation, and the other one had digestive tract rudimentary one year after operation, and the condition was stable after conservative treatment. The preoperative retrograde portal venography can be used to evaluate the portal vein system in children with CTPV, which provides important clinical basis for making appropriate treatment plan before surgery. The preoperative retrograde portal venography can be used to evaluate the portal vein system in children with CTPV, which provides important clinical basis for making appropriate treatment plan before surgery. To perform gene mutation analysis in a patient with atypical clinical manifestations of tuberous sclerosis (TSC) for definite diagnosis. Peripheral blood DNA was obtained from a patient with clinically suspected TSC and her parents, and all exons and their flanking sequences of and genes in the proband were sequenced by whole exome sequencing to determine the candidate pathogenic mutations. At the same time, Sanger sequencing was performed to verify the peripheral blood DNA of the patient and her parents. And the mosaic percentage of the mutation in the proband's somatic cells was detected by the droplet digital PCR method. A heterozygous nonsense mutation c.1096G>T (p.E366*) was identified in the exon 11 of the gene, which only had a small mutation peak. A lower percentage of the mutation was found in the DNA of the patient than that in the public database, therefore the possibility of mosaicism might not be excluded. In addition, the droplet digital PCR method demonstrated that the proband was a c.1096G>T mutant mosaicism, and the mosaic percentage was 14%. The somatic mosaic mutation c.1096G>T (p.e366*) may be responsible for the phenotype of TSC in this patient. And the drop digital PCR is expected to be a diagnostic method for somatic cells mosaicism. T (p.e366*) may be responsible for the phenotype of TSC in this patient. And the drop digital PCR is ex

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