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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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