Publications:

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes.

Hgg Advances

Canson, Daffodil M DM; O'Mara, Tracy A TA; Spurdle, Amanda B AB; Glubb, Dylan M DM

Publication Date: 2023-04-13

Variant appearance in text: rs35888506

PubMed Link: 36908940

Variant Present in the following documents:

• Main text
• mmc2.xlsx, sheet 1
• mmc3.pdf
• mmc2.xlsx, sheet 2
• main.pdf
• mmc2.xlsx, sheet 3

View BVdb publication page

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: 4836-1609C>T; rs35888506

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

View BVdb publication page

A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.

Molecular Genetics & Genomic Medicine

Keegan, Niall Patrick NP; Fletcher, Sue S

Publication Date: 2021-10-28

Variant appearance in text: rs35888506

PubMed Link: 34708937

Variant Present in the following documents:

• Main text
• MGG3-10-e1840.pdf

View BVdb publication page

A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.

Molecular Genetics & Genomic Medicine

Keegan, Niall Patrick NP; Fletcher, Sue S

Publication Date: 2022-01

Variant appearance in text: rs35888506

PubMed Link: 34708937

Variant Present in the following documents:

• Main text
• MGG3-10-e1840.pdf

View BVdb publication page