FBN1 c.384C>A ;(p.S128R)

Variant ID: 15-48892394-G-T

NM_000138.4(FBN1):c.384C>A;(p.S128R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: FBN1: 384C>A
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
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Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.

Circulation Research
Rutsch, Frank F; Nitschke, Yvonne Y; Terkeltaub, Robert R
Publication Date: 2011-08-19

Variant appearance in text: FBN1: S128R
PubMed Link: 21852556
Variant Present in the following documents:
  • Main text
View BVdb publication page