Publications:

Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology

Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G

Publication Date: 2021-01-22

Variant appearance in text: TSC2: L448R

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

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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: 1343T>G; L448R

PubMed Link: 31799751

Variant Present in the following documents:

• Main text
• HUMU-41-759.pdf

View BVdb publication page