Publications:

Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.

Molecular And Clinical Oncology

Hoang, Chinh Quoc CQ; Duong, Hong-Quan HQ; Nguyen, Nguyen Thanh NT; Nguyen, Sy Anh Hao SAH; Nguyen, Cuong C; Nguyen, Bo Duy BD; Phung, Lan Tuyet LT; Nguyen, Dung Thuy DT; Pham, Chau Thi Minh CTM; Le Doan, Trang T; Tran, Mai Hoang MH

Publication Date: 2021-09

Variant appearance in text: RB1: 83C>G; Pro28Arg; rs776175164

PubMed Link: 34277001

Variant Present in the following documents:

• Main text

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Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging

Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N

Publication Date: 2020-02-24

Variant appearance in text: RB1: 83C>G; P28R; rs776175164

PubMed Link: 32091409

Variant Present in the following documents:

• aging-12-102783-s001..xlsx, sheet 1

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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology

Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q

Publication Date: 2019-03

Variant appearance in text: RB1: 83C>G; Pro28Arg

PubMed Link: 31106028

Variant Present in the following documents:

• tvst-08-02-12_s02.xlsx, sheet 1

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Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj

Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2019

Variant appearance in text: RB1: P28R

PubMed Link: 30828495

Variant Present in the following documents:

• peerj-07-6501-s001.xlsx, sheet 10

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Spectrum of germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand.

Molecular Vision

Rojanaporn, Duangnate D; Boontawon, Tatpong T; Chareonsirisuthigul, Takol T; Thanapanpanich, Onrampa O; Attaseth, Taweevat T; Saengwimol, Duangporn D; Anurathapan, Usanarat U; Sujirakul, Tharikarn T; Kaewkhaw, Rossukon R; Hongeng, Suradej S

Publication Date: 2018

Variant appearance in text: RB1: Pro28Arg

PubMed Link: 30636860

Variant Present in the following documents:

• Main text
• mv-v24-778.pdf

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