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: NF1: 888+651T>A

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Orphanet Journal Of Rare Diseases

Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP

Publication Date: 2021-10-09

Variant appearance in text: NF1: 888+651T>A

PubMed Link: 34627339

Variant Present in the following documents:

• 13023_2021_2025_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Orphanet Journal Of Rare Diseases

Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP

Publication Date: 2021-10-09

Variant appearance in text: NF1: 888+651T>A

PubMed Link: 34627339

Variant Present in the following documents:

• 13023_2021_2025_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Plos One

Kim, Borahm B; Lee, Hyeonah H; Jang, Jieun J; Kim, Soo-Jeong SJ; Lee, Seung-Tae ST; Cheong, June-Won JW; Lyu, Chuhl Joo CJ; Min, Yoo Hong YH; Choi, Jong Rak JR

Publication Date: 2019

Variant appearance in text: NF1: 888+651T>A

PubMed Link: 30840646

Variant Present in the following documents:

• pone.0212228.s002.pdf

View BVdb publication page

Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Journal Of Applied Genetics

Anna, Abramowicz A; Monika, Gos G

Publication Date: 2018-08

Variant appearance in text: NF1: 888+651T>A

PubMed Link: 29680930

Variant Present in the following documents:

• Main text
• 13353_2018_Article_444.pdf

View BVdb publication page