GC c.513del ;(p.L172Cfs*4)

Variant ID: 4-72629614-GA-G

NM_000583.3(GC):c.513del;(p.L172Cfs*4)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GC: 513delT
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation.

Nature Communications
Li, Yanhe Y; Weng, Yuteng Y; Bai, Dandan D; Jia, Yanping Y; Liu, Yingdong Y; Zhang, Yalin Y; Kou, Xiaochen X; Zhao, Yanhong Y; Ruan, Jingling J; Chen, Jiayu J; Yin, Jiqing J; Wang, Hong H; Teng, Xiaoming X; Wang, Zuolin Z; Liu, Wenqiang W; Gao, Shaorong S
Publication Date: 2020-09-14

Variant appearance in text: GC: 513del
PubMed Link: 32929070
Variant Present in the following documents:
  • 41467_2020_18391_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.

Frontiers In Endocrinology
Ceccarini, Giovanni G; Magno, Silvia S; Pelosini, Caterina C; Ferrari, Federica F; Sessa, Maria Rita MR; Scabia, Gaia G; Maffei, Margherita M; Jéru, Isabelle I; Lascols, Olivier O; Vigouroux, Corinne C; Santini, Ferruccio F
Publication Date: 2020

Variant appearance in text: GC: 513del
PubMed Link: 32117065
Variant Present in the following documents:
  • Main text
  • fendo-11-00039.pdf
View BVdb publication page



The trypanocidal benzoxaborole AN7973 inhibits trypanosome mRNA processing.

Plos Pathogens
Begolo, Daniela D; Vincent, Isabel M IM; Giordani, Federica F; Pöhner, Ina I; Witty, Michael J MJ; Rowan, Timothy G TG; Bengaly, Zakaria Z; Gillingwater, Kirsten K; Freund, Yvonne Y; Wade, Rebecca C RC; Barrett, Michael P MP; Clayton, Christine C
Publication Date: 2018-09

Variant appearance in text: GC: 513delT
PubMed Link: 30252911
Variant Present in the following documents:
  • ppat.1007315.s003.xlsx, sheet 3
View BVdb publication page