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Involvement of LAT1 and LAT2 in the high- and low-affinity transport of L-leucine in human retinal pigment epithelial cells (ARPE-19 cells) - Journal of Pharmaceutical Sciences

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

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The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer - ScienceDirect

Frontiers Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays

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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

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