FBN1 c.7713T>G ;(p.C2571W)

Variant ID: 15-48712990-A-C

NM_000138.4(FBN1):c.7713T>G;(p.C2571W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine
Nair, Pratibha P; Sabbagh, Sandra S; Mansour, Hicham H; Fawaz, Ali A; Hmaimess, Ghassan G; Noun, Peter P; Dagher, Rawane R; Megarbane, Hala H; Hana, Sayeeda S; Alame, Saada S; Lamaa, Maher M; Hasbini, Dana D; Farah, Roula R; Rajab, Mariam M; Stora, Samantha S; El-Tourjuman, Oulfat O; Abou Jaoude, Pauline P; Chalouhi, Gihad G; Sayad, Rony R; Gillart, Anne-Celine AC; Al-Ali, Mahmoud M; Delague, Valerie V; El-Hayek, Stephany S; Mégarbané, André A
Publication Date: 2018-11

Variant appearance in text: FBN1: 7713T>G; Cys2571Trp
PubMed Link: 30293248
Variant Present in the following documents:
  • Main text
  • MGG3-6-1041.pdf
View BVdb publication page