CP c.2554+1G>T

Variant ID: 3-148899791-C-A

NM_000096.3(CP):c.2554+1G>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CP: 2554+1G>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

International Journal Of Molecular Sciences
Vila Cuenca, Marc M; Marchi, Giacomo G; Barqué, Anna A; Esteban-Jurado, Clara C; Marchetto, Alessandro A; Giorgetti, Alejandro A; Chelban, Viorica V; Houlden, Henry H; Wood, Nicholas W NW; Piubelli, Chiara C; Dorigatti Borges, Marina M; Martins de Albuquerque, Dulcinéia D; Yotsumoto Fertrin, Kleber K; Jové-Buxeda, Ester E; Sanchez-Delgado, Jordi J; Baena-Díez, Neus N; Burnyte, Birute B; Utkus, Algirdas A; Busti, Fabiana F; Kaubrys, Gintaras G; Suku, Eda E; Kowalczyk, Kamil K; Karaszewski, Bartosz B; Porter, John B JB; Pollard, Sally S; Eleftheriou, Perla P; Bignell, Patricia P; Girelli, Domenico D; Sanchez, Mayka M
Publication Date: 2020-03-30

Variant appearance in text: CP: 2554+1G>T
PubMed Link: 32235485
Variant Present in the following documents:
  • ijms-21-02374-s001.pdf
View BVdb publication page



Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.

Journal Of Hepatology
Finkenstedt, Armin A; Wolf, Elisabeth E; Höfner, Elmar E; Gasser, Bethina Isasi BI; Bösch, Sylvia S; Bakry, Rania R; Creus, Marc M; Kremser, Christian C; Schocke, Michael M; Theurl, Milan M; Moser, Patrizia P; Schranz, Melanie M; Bonn, Guenther G; Poewe, Werner W; Vogel, Wolfgang W; Janecke, Andreas R AR; Zoller, Heinz H
Publication Date: 2010-12

Variant appearance in text: CP: 2554+1G>T
PubMed Link: 20801540
Variant Present in the following documents:
  • Main text
View BVdb publication page