FBN1 c.1489_1490delinsGC ;(p.N497A)

Variant ID: 15-48805844-TT-GC

NM_000138.4(FBN1):c.1489_1490delinsGC;(p.N497A)

This variant was identified in 4 publications

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Publications:


Translational potential of base-editing tools for gene therapy of monogenic diseases.

Frontiers In Bioengineering And Biotechnology
Reshetnikov, Vasiliy V VV; Chirinskaite, Angelina V AV; Sopova, Julia V JV; Ivanov, Roman A RA; Leonova, Elena I EI
Publication Date: 2022

Variant appearance in text: FBN1: N497A
PubMed Link: 36032737
Variant Present in the following documents:
  • Main text
  • fbioe-10-942440.pdf
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Engineering of near-PAMless adenine base editor with enhanced editing activity and reduced off-target.

Molecular Therapy. Nucleic Acids
Cao, Xiaofang X; Guo, Junfan J; Huang, Shisheng S; Yu, Wenxia W; Li, Guanglei G; An, Lisha L; Li, Xiangyang X; Tao, Wanyu W; Liu, Qing Q; Huang, Xingxu X; Jin, Xiaohua X; Ma, Xu X
Publication Date: 2022-06-14

Variant appearance in text: FBN1: N497A
PubMed Link: 35664696
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc3.pdf
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KPT330 improves Cas9 precision genome- and base-editing by selectively regulating mRNA nuclear export.

Communications Biology
Cui, Yan-Ru YR; Wang, Shao-Jie SJ; Ma, Tiancheng T; Yu, Peihong P; Chen, Jun J; Guo, Taijie T; Meng, Genyi G; Jiang, Biao B; Dong, Jiajia J; Liu, Jia J
Publication Date: 2022-03-17

Variant appearance in text: FBN1: N497A
PubMed Link: 35301428
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3188.pdf
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Current Status and Challenges of DNA Base Editing Tools.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Jeong, You Kyeong YK; Song, Beomjong B; Bae, Sangsu S
Publication Date: 2020-09-02

Variant appearance in text: FBN1: N497A
PubMed Link: 32763143
Variant Present in the following documents:
  • Main text
View BVdb publication page