Publications:

Re-evaluation of missense variant classifications in NF2.

Human Mutation

Sadler, Katherine V KV; Rowlands, Charlie F CF; Smith, Philip T PT; Hartley, Claire L CL; Bowers, Naomi L NL; Roberts, Nicola Y NY; Harris, Jade L JL; Wallace, Andrew J AJ; Evans, D Gareth DG; Messiaen, Ludwine M LM; Smith, Miriam J MJ

Publication Date: 2022-05

Variant appearance in text: rs74315503

PubMed Link: 35332608

Variant Present in the following documents:

• HUMU-43-643-s001.xlsx, sheet 1

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Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology

Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP

Publication Date: 2021

Variant appearance in text: NF2: 1387G>T; E463X

PubMed Link: 34692690

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology.

Acta Neuropathologica Communications

Lorenz, Julia J; Rothhammer-Hampl, Tanja T; Zoubaa, Saida S; Bumes, Elisabeth E; Pukrop, Tobias T; Kölbl, Oliver O; Corbacioglu, Selim S; Schmidt, Nils O NO; Proescholdt, Martin M; Hau, Peter P; Riemenschneider, Markus J MJ

Publication Date: 2020-08-05

Variant appearance in text: NF2: E463X

PubMed Link: 32758285

Variant Present in the following documents:

• 40478_2020_1000_MOESM2_ESM.xlsx, sheet 1

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: NF2: 1387G>T; E463*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Cell Reports

Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL

Publication Date: 2018-08-21

Variant appearance in text: rs74315503

PubMed Link: 30134176

Variant Present in the following documents:

• NIHMS1520774-supplement-Table_S2.xlsx, sheet 3

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