Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TSC2: K347R; rs367963898

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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New Mechanisms of mTOR Pathway Activation in KIT-mutant Malignant GISTs.

Applied Immunohistochemistry & Molecular Morphology : Aimm

Lasota, Jerzy J; Kowalik, Artur A; Felisiak-Golabek, Anna A; Zięba, Sebastian S; Wang, Zeng-Feng ZF; Miettinen, Markku M

Publication Date: 2019-01

Variant appearance in text: TSC2: 1040A>G

PubMed Link: 28777148

Variant Present in the following documents:

• Main text

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Histone deacetylase HDA6 enhances brassinosteroid signaling by inhibiting the BIN2 kinase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hao, Yuhan Y; Wang, Haijiao H; Qiao, Shenglong S; Leng, Linna L; Wang, Xuelu X

Publication Date: 2016-09-13

Variant appearance in text: TSC2: K347R

PubMed Link: 27562168

Variant Present in the following documents:

• Main text

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