Publications:

Structural dynamics in the evolution of a bilobed protein scaffold.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Gouridis, Giorgos G; Muthahari, Yusran A YA; de Boer, Marijn M; Griffith, Douglas A DA; Tsirigotaki, Alexandra A; Tassis, Konstantinos K; Zijlstra, Niels N; Xu, Ruixue R; Eleftheriadis, Nikolaos N; Sugijo, Yovin Y; Zacharias, Martin M; Dömling, Alexander A; Karamanou, Spyridoula S; Pozidis, Charalambos C; Economou, Anastassios A; Cordes, Thorben T

Publication Date: 2021-12-07

Variant appearance in text: 225: M321K

PubMed Link: 34845009

Variant Present in the following documents:

• pnas.2026165118.sapp.pdf

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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: 962T>A

PubMed Link: 31257730

Variant Present in the following documents:

• MGG3-7-e840-s002.xls, sheet 1

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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: 962T>A

PubMed Link: 24498619

Variant Present in the following documents:

• mgg30001-0238-SD1.xlsx, sheet 2

View BVdb publication page