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: NF1: 4836-24289C>A; rs2040792

PubMed Link: 36908940

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 1

View BVdb publication page

A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.

Investigative Ophthalmology & Visual Science

Boley, Sean S; Sloan, Jennifer L JL; Pemov, Alexander A; Stewart, Douglas R DR

Publication Date: 2009-11

Variant appearance in text: rs2040792

PubMed Link: 19516012

Variant Present in the following documents:

• Main text

View BVdb publication page