Publications:

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.

Frontiers In Pharmacology

Abreu, Renata B V RBV; Gomes, Thiago T TT; Nepomuceno, Thales C TC; Li, Xueli X; Fuchshuber-Moraes, Mateus M; De Gregoriis, Giuliana G; Suarez-Kurtz, Guilherme G; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA

Publication Date: 2022

Variant appearance in text: BRCA1: R1751R

PubMed Link: 35837282

Variant Present in the following documents:

• Main text
• fphar-13-935995.pdf

View BVdb publication page

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA1: R1751R

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5253A>C; R1751=

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page