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CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family. To explore the genetic basis for a child featuring global developmental delay. DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. A heterozygous c.239TC (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin
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