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FBN1 c.3223_3225delinsTGA ;(p.R1075*)
Variant ID: 15-48780422-GCG-TCA
NM_000138.4(
FBN1
):c.3223_3225delinsTGA;(p.R1075*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
Frontiers In Genetics
Kim, Su Jin SJ; Lee, Sae-Mi SM; Choi, Jong-Moon JM; Jang, Ja-Hyun JH; Kim, Hyun Gi HG; Kim, Jung-Taek JT; Cho, Jae Ho JH; Sohn, Young Bae YB
Publication Date: 2021
Variant appearance in text: FBN1: Arg1075*
PubMed Link:
34122524
Variant Present in the following documents:
Main text
fgene-12-670608.pdf
View BVdb publication page
Identification of 12 cancer types through genome deep learning.
Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21
Variant appearance in text: FBN1: R1075*
PubMed Link:
31754222
Variant Present in the following documents:
41598_2019_53989_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page