FBN1 c.4747+5G>T

Variant ID: 15-48760130-C-A

NM_000138.4(FBN1):c.4747+5G>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: FBN1: 4747+5G>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review.

Genes
Wang, James Jiqi JJ; Yu, Bo B; Sun, Yang Y; Song, Xiuli X; Wang, Dao Wen DW; Li, Zongzhe Z
Publication Date: 2022-10-12

Variant appearance in text: FBN1: 4747+5G>T
PubMed Link: 36292727
Variant Present in the following documents:
  • genes-13-01842.pdf
View BVdb publication page



Prediction of Probable Major Depressive Disorder in the Taiwan Biobank: An Integrated Machine Learning and Genome-Wide Analysis Approach.

Journal Of Personalized Medicine
Lin, Eugene E; Kuo, Po-Hsiu PH; Lin, Wan-Yu WY; Liu, Yu-Li YL; Yang, Albert C AC; Tsai, Shih-Jen SJ
Publication Date: 2021-06-24

Variant appearance in text: rs193922209
PubMed Link: 34202750
Variant Present in the following documents:
  • Main text
  • jpm-11-00597.pdf
View BVdb publication page