Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.N1002fs
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BRCA1

NM_007294.4:p.N1002fs

Associated Papers

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.

Bard AM et al.

American Journal of Medical Genetics. Part A, 2024

Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.

Bard AM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

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