Publications:

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Scientific Reports

Nepomuceno, Thales C TC; Dos Santos, Ana P P APP; Fernandes, Vanessa C VC; Elias, Anna B R ABR; Gomes, Thiago T TT; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA

Publication Date: 2022-09-28

Variant appearance in text: BRCA1: 4771_4772delinsAA

PubMed Link: 36171434

Variant Present in the following documents:

• Main text
• 41598_2022_Article_20500.pdf
• 41598_2022_20500_MOESM1_ESM.pdf

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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: G1591N

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

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