F8 c.6900+1339A>T

Variant ID: X-154087368-T-A

NM_000132.3(F8):c.6900+1339A>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs4898399
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Violating the theory of single gene-single disorder: inhibitor development in hemophilia.

Indian Journal Of Hematology & Blood Transfusion : An Official Journal Of Indian Society Of Hematology And Blood Transfusion
AlFadhli, Suad S; Nizam, Rasheeba R
Publication Date: 2015-06

Variant appearance in text: rs4898399
PubMed Link: 25825553
Variant Present in the following documents:
  • Main text
View BVdb publication page



A case-control study reveals immunoregulatory gene haplotypes that influence inhibitor risk in severe haemophilia A.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Lozier, J N JN; Rosenberg, P S PS; Goedert, J J JJ; Menashe, I I
Publication Date: 2011-07

Variant appearance in text: rs4898399
PubMed Link: 21362111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics
Smith, Jennifer A JA; Turner, Stephen T ST; Sun, Yan V YV; Fornage, Myriam M; Kelly, Reagan J RJ; Mosley, Thomas H TH; Jack, Clifford R CR; Kullo, Iftikhar J IJ; Kardia, Sharon L R SL
Publication Date: 2009-04-07

Variant appearance in text: rs4898399
PubMed Link: 19351393
Variant Present in the following documents:
  • Main text
  • 1755-8794-2-16.pdf
View BVdb publication page