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FBN1 c.1220G>A ;(p.G407D)
Variant ID: 15-48808487-C-T
NM_000138.4(
FBN1
):c.1220G>A;(p.G407D)
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:
Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.
Bioscience Reports
Wu, Yuduo Y; Sun, Hairui H; Wang, Jianbin J; Wang, Xin X; Gong, Ming M; Han, Lu L; He, Yihua Y; Zhang, Hongjia H
Publication Date: 2020-12-23
Variant appearance in text: FBN1: G407D
PubMed Link:
33200202
Variant Present in the following documents:
Main text
bsr-40-bsr20203356.pdf
View BVdb publication page