Publications:

Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs.

Cancer Management And Research

Wu, Jinchun J; Zhou, Haiyan H; Yi, Xiaoping X; He, Qiongzhi Q; Lei, Tianxiang T; Tan, Fengbo F; Liu, Heli H; Li, Bin B

Publication Date: 2021

Variant appearance in text: NF1: 1004A>G

PubMed Link: 33469372

Variant Present in the following documents:

• Main text
• cmar-13-297.pdf

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Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Cancer Science

Yoshida, Reiko R; Hagio, Taichi T; Kaneyasu, Tomoko T; Gotoh, Osamu O; Osako, Tomo T; Tanaka, Norio N; Amino, Sayuri S; Yaguchi, Noriko N; Nakashima, Eri E; Kitagawa, Dai D; Ueno, Takayuki T; Ohno, Shinji S; Nakajima, Takeshi T; Nakamura, Seigo S; Miki, Yoshio Y; Hirota, Toru T; Takahashi, Shunji S; Matsuura, Masaaki M; Noda, Tetsuo T; Mori, Seiichi S

Publication Date: 2021-03

Variant appearance in text: NF1: N335S

PubMed Link: 33421217

Variant Present in the following documents:

• CAS-112-1310-s002.xlsx, sheet 3

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: NF1: 1004A>G; N335S

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs758212945

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

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