Publications:

Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.

International Ophthalmology

Li, Luting L; Li, Haibo H; Zhang, Jing J; Gan, Hairun H; Liu, Ruihong R; Hu, Xinyan X; Pang, Pengfei P; Li, Bing B

Publication Date: 2022-11

Variant appearance in text: RB1: Arg46Lys

PubMed Link: 35960463

Variant Present in the following documents:

• Main text
• 10792_2022_Article_2341.pdf

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: RB1: R46K

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.

Science Translational Medicine

Tlemsani, Camille C; Takahashi, Nobuyuki N; Pongor, Lorinc L; Rajapakse, Vinodh N VN; Tyagi, Manoj M; Wen, Xinyu X; Fasaye, Grace-Ann GA; Schmidt, Keith T KT; Desai, Parth P; Kim, Chul C; Rajan, Arun A; Swift, Shannon S; Sciuto, Linda L; Vilimas, Rasa R; Webb, Santhana S; Nichols, Samantha S; Figg, William Douglas WD; Pommier, Yves Y; Calzone, Kathleen K; Steinberg, Seth M SM; Wei, Jun S JS; Guha, Udayan U; Turner, Clesson E CE; Khan, Javed J; Thomas, Anish A

Publication Date: 2021-01-27

Variant appearance in text: RB1: 137G>A; R46Q

PubMed Link: 33504652

Variant Present in the following documents:

• Main text

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Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.

Molecular Vision

Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P

Publication Date: 2021

Variant appearance in text: RB1: 137G>A; R46K

PubMed Link: 33456302

Variant Present in the following documents:

• Main text
• mv-v27-1.pdf

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Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

Molecular Vision

Abouzeid, Hana H; Schorderet, Daniel F DF; Balmer, Aubin A; Munier, Francis L FL

Publication Date: 2009

Variant appearance in text: RB1: R46K

PubMed Link: 19390654

Variant Present in the following documents:

• Main text
• mv-v15-771.pdf

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