Condition: FANCONI ANEMIA, COMPLEMENTATION GROUP D1


rs1555286294 in BRCA2 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP D1 PMID 30207912 2018 Essential Role of BRCA2 in Ovarian Development and Function.

PMID 14670928 2004 Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 14559878 2003 Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

PMID 12065746 2002 Biallelic inactivation of BRCA2 in Fanconi anemia.

PMID 23108138 2013 A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.