HIGHLIGHTS
- who: Thomas Rosengren from the Clinical Genetics Clinic, Copenhagen University have published the Article: Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex, in the Journal: Scientific Reports Scientific Reports of 26/07/2019
SUMMARY
In both cases, c.1 is the A of the ATG translation initiation_codon, and p.M1 is the initiation_codon. Cells expressing the variants were compared to cells expressing wild-type TSC2, the pathogenic TSC2 p.Arg611Gln variant, and cells not expressing TSC2 (TSC1/S6K only). Five TSC2 variants were predicted to lead to an . . .
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