Publications:

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

Molecular Genetics & Genomic Medicine

Katneni, Upendra K UK; Liss, Aaron A; Holcomb, David D; Katagiri, Nobuko H NH; Hunt, Ryan R; Bar, Haim H; Ismail, Amra A; Komar, Anton A AA; Kimchi-Sarfaty, Chava C

Publication Date: 2019-08

Variant appearance in text: 225: 839G>T

PubMed Link: 31257730

Variant Present in the following documents:

• MGG3-7-e840-s002.xls, sheet 1

View BVdb publication page

Common hydrogen bond interactions in diverse phosphoryl transfer active sites.

Plos One

Summerton, Jean C JC; Martin, Gregory M GM; Evanseck, Jeffrey D JD; Chapman, Michael S MS

Publication Date: 2014

Variant appearance in text: 225: R280L

PubMed Link: 25238155

Variant Present in the following documents:

• Main text

View BVdb publication page

The CDC Hemophilia B mutation project mutation list: a new online resource.

Molecular Genetics & Genomic Medicine

Li, Tengguo T; Miller, Connie H CH; Payne, Amanda B AB; Craig Hooper, W W

Publication Date: 2013-11

Variant appearance in text: 225: 839G>T

PubMed Link: 24498619

Variant Present in the following documents:

• mgg30001-0238-SD1.xlsx, sheet 2

View BVdb publication page