Publications:

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Human Mutation

Dufner Almeida, Luiz G LG; Nanhoe, Santoesha S; Zonta, Andrea A; Hosseinzadeh, Mitra M; Kom-Gortat, Regina R; Elfferich, Peter P; Schaaf, Gerben G; Kenter, Annegien A; Kümmel, Daniel D; Migone, Nicola N; Povey, Sue S; Ekong, Rosemary R; Nellist, Mark M

Publication Date: 2020-04

Variant appearance in text: TSC2: 3589A>T; I1197F

PubMed Link: 31799751

Variant Present in the following documents:

• Main text
• HUMU-41-759.pdf

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