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FBN1 c.175T>C ;(p.C59R)
Variant ID: 15-48905279-A-G
NM_000138.4(
FBN1
):c.175T>C;(p.C59R)
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:
Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.
Plos One
Wei, Xiaoming X; Ju, Xiangchun X; Yi, Xin X; Zhu, Qian Q; Qu, Ning N; Liu, Tengfei T; Chen, Yang Y; Jiang, Hui H; Yang, Guanghui G; Zhen, Ruan R; Lan, Zhangzhang Z; Qi, Ming M; Wang, Jinming J; Yang, Yi Y; Chu, Yuxing Y; Li, Xiaoyan X; Guang, Yanfang Y; Huang, Jian J
Publication Date: 2011
Variant appearance in text: FBN1: 175T>C; C59R
PubMed Link:
22216297
Variant Present in the following documents:
Main text
pone.0029500.pdf
View BVdb publication page