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Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants:application of a points-based ACMG/AMP approach

• Authors : Thomassen, Mads; Mesman, Romy L S; Hansen, Thomas V O

Subjects: ACMG/AMP classification; BRCA2; dPCR

• Source: Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B,

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