Publications:

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Treichel, Alison M AM; Hamieh, Lana L; Nathan, Neera R NR; Tyburczy, Magdalena E ME; Wang, Ji-An JA; Oyerinde, Oyetewa O; Raiciulescu, Sorana S; Julien-Williams, Patricia P; Jones, Amanda M AM; Gopalakrishnan, Vissaagan V; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN

Publication Date: 2019-11

Variant appearance in text: TSC2: 1512_1513delinsTT; Arg505*

PubMed Link: 31114024

Variant Present in the following documents:

• Main text
• nihms-1662901.pdf

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