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FBN1 c.247+6T>G
Variant ID: 15-48905201-A-C
NM_000138.4(
FBN1
):c.247+6T>G
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:
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Advances In Bioinformatics
Tang, Rongying R; Prosser, Debra O DO; Love, Donald R DR
Publication Date: 2016
Variant appearance in text: FBN1: 247+6T>G
PubMed Link:
27313609
Variant Present in the following documents:
5614058.f1.pdf
View BVdb publication page