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FBN1 c.2269G>C ;(p.D757H)
Variant ID: 15-48789487-C-G
NM_000138.4(
FBN1
):c.2269G>C;(p.D757H)
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:
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.
Respiratory Research
Zhang, Xinxin X; Ma, Dehua D; Zou, Wei W; Ding, Yibing Y; Zhu, Chengchu C; Min, Haiyan H; Zhang, Bin B; Wang, Wei W; Chen, Baofu B; Ye, Minhua M; Cai, Minghui M; Pan, Yanqing Y; Cao, Lei L; Wan, Yueming Y; Jin, Yu Y; Gao, Qian Q; Yi, Long L
Publication Date: 2016-05-27
Variant appearance in text: FBN1: 2269G>C; D757H
PubMed Link:
27229674
Variant Present in the following documents:
Main text
12931_2016_Article_377.pdf
View BVdb publication page