ABCA4 c.1554+5235C>T

Variant ID: 1-94538011-G-A

NM_000350.2(ABCA4):c.1554+5235C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.

Scientific Reports
Ngô, Huân M HM; Zhou, Ying Y; Lorenzi, Hernan H; Wang, Kai K; Kim, Taek-Kyun TK; Zhou, Yong Y; El Bissati, Kamal K; Mui, Ernest E; Fraczek, Laura L; Rajagopala, Seesandra V SV; Roberts, Craig W CW; Henriquez, Fiona L FL; Montpetit, Alexandre A; Blackwell, Jenefer M JM; Jamieson, Sarra E SE; Wheeler, Kelsey K; Begeman, Ian J IJ; Naranjo-Galvis, Carlos C; Alliey-Rodriguez, Ney N; Davis, Roderick G RG; Soroceanu, Liliana L; Cobbs, Charles C; Steindler, Dennis A DA; Boyer, Kenneth K; Noble, A Gwendolyn AG; Swisher, Charles N CN; Heydemann, Peter T PT; Rabiah, Peter P; Withers, Shawn S; Soteropoulos, Patricia P; Hood, Leroy L; McLeod, Rima R
Publication Date: 2017-09-13

Variant appearance in text: rs1761375
PubMed Link: 28904337
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10675.pdf
View BVdb publication page



Host genetic and epigenetic factors in toxoplasmosis.

Memorias Do Instituto Oswaldo Cruz
Jamieson, Sarra E SE; Cordell, Heather H; Petersen, Eskild E; McLeod, Rima R; Gilbert, Ruth E RE; Blackwell, Jenefer M JM
Publication Date: 2009-03

Variant appearance in text: rs1761375
PubMed Link: 19430638
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

Plos One
Jamieson, Sarra E SE; de Roubaix, Lee-Anne LA; Cortina-Borja, Mario M; Tan, Hooi Kuan HK; Mui, Ernest J EJ; Cordell, Heather J HJ; Kirisits, Michael J MJ; Miller, E Nancy EN; Peacock, Christopher S CS; Hargrave, Aubrey C AC; Coyne, Jessica J JJ; Boyer, Kenneth K; Bessieres, Marie-Hélène MH; Buffolano, Wilma W; Ferret, Nicole N; Franck, Jacqueline J; Kieffer, François F; Meier, Paul P; Nowakowska, Dorota E DE; Paul, Malgorzata M; Peyron, François F; Stray-Pedersen, Babill B; Prusa, Andrea-Romana AR; Thulliez, Philippe P; Wallon, Martine M; Petersen, Eskild E; McLeod, Rima R; Gilbert, Ruth E RE; Blackwell, Jenefer M JM
Publication Date: 2008-06-04

Variant appearance in text: rs1761375
PubMed Link: 18523590
Variant Present in the following documents:
  • Main text
  • pone.0002285.pdf
View BVdb publication page