Case Report: Biallelic BRCA1 pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location

• Authors: Colin C. Young; Ashley Lahr; Caroline Nestor; Ashley Kaminski; Marcy E. Richardson; Georgianne L. Arnold
• Collaborators: University of Pittsburgh Medical Center (UPMC)
• Journal: Frontiers in Oncology
• Date: 2025 - May
• Topics: Phenotype Characterization Variant Assess. & Interpretation