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FBN1 c.1747del ;(p.N584Mfs*41)
Variant ID: 15-48800868-AG-A
NM_000138.4(
FBN1
):c.1747del;(p.N584Mfs*41)
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:
Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Quarto, Natalina N; Leonard, Brian B; Li, Shuli S; Marchand, Melanie M; Anderson, Erica E; Behr, Barry B; Francke, Uta U; Reijo-Pera, Renee R; Chiao, Eric E; Longaker, Michael T MT
Publication Date: 2012-01-03
Variant appearance in text: FBN1: 1747delC
PubMed Link:
22178754
Variant Present in the following documents:
Main text
View BVdb publication page