FBN1 c.8275_8291del ;(p.E2759Cfs*9)

Variant ID: 15-48703511-AAAGATGGCTGTCTTCTC-A

NM_000138.4(FBN1):c.8275_8291del;(p.E2759Cfs*9)

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: 8275_8291del; Glu2759fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: FBN1: 8275_8291del
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Molecular Genetics & Genomic Medicine
Lin, Mao M; Liu, Zhenlei Z; Liu, Gang G; Zhao, Sen S; Li, Chao C; Chen, Weisheng W; Coban Akdemir, Zeynep Z; Lin, Jiachen J; Song, Xiaofei X; Wang, Shengru S; Xu, Qiming Q; Zhao, Yanxue Y; Wang, Lianlei L; Zhang, Yuanqiang Y; Yan, Zihui Z; Liu, Sen S; Liu, Jiaqi J; Chen, Yixin Y; Zuo, Yuzhi Y; Yang, Xu X; Sun, Tianshu T; Yang, Xin-Zhuang XZ; Niu, Yuchen Y; Li, Xiaoxin X; You, Wesley W; Qiu, Bintao B; Ding, Chen C; Liu, Pengfei P; Zhang, Shuyang S; Carvalho, Claudia M B CMB; Posey, Jennifer E JE; Qiu, Guixing G; , ; Lupski, James R JR; Wu, Zhihong Z; Zhang, Jianguo J; Wu, Nan N
Publication Date: 2020-01

Variant appearance in text: FBN1: 8275_8291delGAGAAGACAGCCATCTT; E2759Cfs*9
PubMed Link: 31774634
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1023.pdf
View BVdb publication page