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. 2017 Sep 5;26(23):4629–4641. doi: 10.1093/hmg/ddx345

Table 1.

TSC patient clinical history, biopsy information, and genotyping

Patient Gene DNA (NG_005895.1) Protein (NP_000539.2) Exon Age of Epilepsy Onset Autism Intellec Disability Age at dermal biopsy Biopsy skin lesion
TSP20 TSC2 g.11900T>A p.Cys203Ter 6/41 6 months Y Y 6 years Hypopigmented macule
TSP23 TSC2 g.34854C>T p.Arg1032Ter 26/41 6 months Y Y 2 years Hypopigmented macule
TSP31 TSC2 g.40172C>T p.Gln1419Ter 33/41 2 months Y Y 12 years Shagreen patch