EGF c.586_587delinsCC ;(p.L196P)

Variant ID: 4-110865074-TT-CC

NM_001963.4(EGF):c.586_587delinsCC;(p.L196P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?

Journal Of Blood Medicine
Nurden, Alan A
Publication Date: 2021

Variant appearance in text: EGF: L196P
PubMed Link: 34267570
Variant Present in the following documents:
  • Main text
  • jbm-12-581.pdf
View BVdb publication page



Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options.

Journal Of Blood Medicine
Solh, Tia T; Botsford, Ashley A; Solh, Melhem M
Publication Date: 2015

Variant appearance in text: EGF: Leu196Pro
PubMed Link: 26185478
Variant Present in the following documents:
  • Main text
  • jbm-6-219.pdf
View BVdb publication page



Glanzmann thrombasthenia: state of the art and future directions.

Seminars In Thrombosis And Hemostasis
Nurden, Alan T AT; Pillois, Xavier X; Wilcox, David A DA
Publication Date: 2013-09

Variant appearance in text: EGF: Leu196Pro
PubMed Link: 23929305
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unique disulfide bonds in epidermal growth factor (EGF) domains of β3 affect structure and function of αIIbβ3 and αvβ3 integrins in different manner.

The Journal Of Biological Chemistry
Mor-Cohen, Ronit R; Rosenberg, Nurit N; Einav, Yulia Y; Zelzion, Ehud E; Landau, Meytal M; Mansour, Wissam W; Averbukh, Yulia Y; Seligsohn, Uri U
Publication Date: 2012-03-16

Variant appearance in text: EGF: L196P
PubMed Link: 22308022
Variant Present in the following documents:
  • Main text
View BVdb publication page



A mono-allelic bivalent chromatin domain controls tissue-specific imprinting at Grb10.

The Embo Journal
Sanz, Lionel A LA; Chamberlain, Stormy S; Sabourin, Jean-Charles JC; Henckel, Amandine A; Magnuson, Terry T; Hugnot, Jean-Philippe JP; Feil, Robert R; Arnaud, Philippe P
Publication Date: 2008-10-08

Variant appearance in text: EGF: L196P
PubMed Link: 18650936
Variant Present in the following documents:
  • Main text
View BVdb publication page