GeneticsJNCI Journal of the National Cancer InstitutePeer-reviewed
BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma
Michael P. Randall, Laura E. Egolf, Zalman Vaksman…·Kristopher R. Bosse
This study identifies BARD1 germline variants associated with reduced BARD1 expression and DNA repair defects in neuroblastoma, showing haploinsufficiency and increased genomic instability.
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