Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.H553Y
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BRCA1

NM_007294.4:p.H553Y

Associated Papers

A novel high-resolution melting analysis strategy for detecting cystic fibrosis-causing variants.

Díez Rodríguez GR et al.

Laboratory Medicine, 2024

Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.

Sangree AK et al.

Nature Communications, 2022

35288574 (PubMed )
Supplement: 41467_2022_28884_MOESM9_ESM.xlsx › WT-CBE_library_annotation

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

Huang C et al.

Genome Biology, 2021

33691754 (PubMed )
Supplement: 13059_2021_2305_MOESM7_ESM.xlsx › Table_S6

Symmetric snapback primers for scanning and genotyping of the cystic fibrosis transmembrane conductance regulator gene.

Zhou L et al.

Clinical Chemistry, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."