Publications:

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation

Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ

Publication Date: 2022-05-16

Variant appearance in text: TSC2: 3284+1G>A

PubMed Link: 35358092

Variant Present in the following documents:

• jci-132-155858-s186.xlsx, sheet 1

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mTORC1 Is Not Principally Involved in the Induction of Human Endotoxin Tolerance.

Frontiers In Immunology

Ludwig, Kristin K; Husain, Ralf A RA; Rubio, Ignacio I

Publication Date: 2020

Variant appearance in text: TSC2: 3284+1G>A

PubMed Link: 32849516

Variant Present in the following documents:

• Main text
• fimmu-11-01515.pdf

View BVdb publication page