Publications:

Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR.

Biomolecular Detection And Quantification

Van Heetvelde, Mattias M; Van Loocke, Wouter W; Trypsteen, Wim W; Baert, Annelot A; Vanderheyden, Katrien K; Crombez, Brecht B; Vandesompele, Jo J; De Leeneer, Kim K; Claes, Kathleen B M KBM

Publication Date: 2017-09

Variant appearance in text: BRCA1: 135_212del

PubMed Link: 29021971

Variant Present in the following documents:

• Main text
• main.pdf

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Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.

Human Mutation

Spurdle, Amanda B AB; Lakhani, Sunil R SR; Da Silva, Leonard M LM; Balleine, Rosemary L RL; , ; Goldgar, David E DE

Publication Date: 2010-02

Variant appearance in text: BRCA1: 135_212del; Phe46_arg71del

PubMed Link: 20020529

Variant Present in the following documents:

• Main text

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