Publications:

Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2022

Variant appearance in text: APC: 1408+731C>T

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

Npj Genomic Medicine

Toland, Amanda Ewart AE; Forman, Andrea A; Couch, Fergus J FJ; Culver, Julie O JO; Eccles, Diana M DM; Foulkes, William D WD; Hogervorst, Frans B L FBL; Houdayer, Claude C; Levy-Lahad, Ephrat E; Monteiro, Alvaro N AN; Neuhausen, Susan L SL; Plon, Sharon E SE; Sharan, Shyam K SK; Spurdle, Amanda B AB; Szabo, Csilla C; Brody, Lawrence C LC; ,

Publication Date: 2018

Variant appearance in text: APC: 1408+731C>T

PubMed Link: 29479477

Variant Present in the following documents:

• 41525_2018_46_MOESM4_ESM.xlsx, sheet 2

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Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.

Oncotarget

Nieminen, Taina T TT; Pavicic, Walter W; Porkka, Noora N; Kankainen, Matti M; Järvinen, Heikki J HJ; Lepistö, Anna A; Peltomäki, Päivi P

Publication Date: 2016-10-25

Variant appearance in text: APC: 1408+731C>T

PubMed Link: 27683109

Variant Present in the following documents:

• Main text
• oncotarget-07-70685.pdf

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