Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L147_Q148Splc
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BRCA1

NM_007294.4:p.L147_Q148Splc

Associated Papers

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S3_SNV.xlsx › s4_BRCA1

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s002.xlsx › BRCA1

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Walker LC et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2

Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View.

Jang W et al.

International Journal of Genomics, 2022

36275637 (PubMed )
Supplement: 5265686.f1.docx

Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Zayas-Villanueva OA et al.

Bmc Cancer, 2019

31331294 (PubMed )
Supplement: 12885_2019_5950_MOESM1_ESM.xlsx › Healthy

Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.

Ricks-Santi L et al.

Ethnicity & Disease, 2017

Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients.

Onyia AF et al.

Technology in Cancer Research & Treatment, 0

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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."