Publications:

Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a TSC2 Variant in Renal Tissue.

Molecular Syndromology

Ikeda, Kristin M KM; House, Andrew A AA; Connaughton, Dervla M DM; Pautler, Stephen E SE; Siu, Victoria Mok VM; Jones, Michelle-Lee ML

Publication Date: 2021-06

Variant appearance in text: TSC2: 2046dupG; Ser683Valfs*20

PubMed Link: 34177431

Variant Present in the following documents:

• Main text

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