F7 c.225+71G>A

Variant ID: 13-113765235-G-A

NM_019616.3(F7):c.225+71G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits.

Scientific Reports
Deming, Yuetiva Y; Xia, Jian J; Cai, Yefei Y; Lord, Jenny J; Del-Aguila, Jorge L JL; Fernandez, Maria Victoria MV; Carrell, David D; Black, Kathleen K; Budde, John J; Ma, ShengMei S; Saef, Benjamin B; Howells, Bill B; Bertelsen, Sarah S; Bailey, Matthew M; Ridge, Perry G PG; , ; Holtzman, David D; Morris, John C JC; Bales, Kelly K; Pickering, Eve H EH; Lee, Jin-Moo JM; Heitsch, Laura L; Kauwe, John J; Goate, Alison A; Piccio, Laura L; Cruchaga, Carlos C
Publication Date: 2016-01-04

Variant appearance in text: rs2774033
PubMed Link: 36647296
Variant Present in the following documents:
  • srep18092-s1.pdf
View BVdb publication page



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: rs2774033
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Can Genetic Analysis of Putative Blood Alzheimer's Disease Biomarkers Lead to Identification of Susceptibility Loci?

Plos One
Barber, Robert C RC; Phillips, Nicole R NR; Tilson, Jeffrey L JL; Huebinger, Ryan M RM; Shewale, Shantanu J SJ; Koenig, Jessica L JL; Mitchel, Jeffrey S JS; O'Bryant, Sid E SE; Waring, Stephen C SC; Diaz-Arrastia, Ramon R; Chasse, Scott S; Wilhelmsen, Kirk C KC; , ; ,
Publication Date: 2015

Variant appearance in text: rs2774033
PubMed Link: 26625115
Variant Present in the following documents:
  • Main text
  • pone.0142360.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2774033
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page