HR c.206C>T ;(p.P69L)

Variant ID: 8-21986478-G-A

NM_005144.4(HR):c.206C>T;(p.P69L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Strategies to improve homology-based repair outcomes following CRISPR-based gene editing in mosquitoes: lessons in how to keep any repair disruptions local.

Virology Journal
Finney, Micaela M; Romanowski, Joseph J; Adelman, Zach N ZN
Publication Date: 2022-07-30

Variant appearance in text: HR: P69L
PubMed Link: 35908059
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab.

Bone Reports
Regev, Ravit R; Sochett, Etienne B EB; Elia, Yesmino Y; Laxer, Ronald M RM; Noone, Damien D; Whitney-Mahoney, Kristi K; Filipowski, Kornelia K; Shamas, Amer A; Vali, Reza R
Publication Date: 2021-06

Variant appearance in text: HR: 206C>T
PubMed Link: 33506078
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Inhibition of 53BP1 favors homology-dependent DNA repair and increases CRISPR-Cas9 genome-editing efficiency.

Nature Biotechnology
Canny, Marella D MD; Moatti, Nathalie N; Wan, Leo C K LCK; Fradet-Turcotte, Amélie A; Krasner, Danielle D; Mateos-Gomez, Pedro A PA; Zimmermann, Michal M; Orthwein, Alexandre A; Juang, Yu-Chi YC; Zhang, Wei W; Noordermeer, Sylvie M SM; Seclen, Eduardo E; Wilson, Marcus D MD; Vorobyov, Andrew A; Munro, Meagan M; Ernst, Andreas A; Ng, Timothy F TF; Cho, Tiffany T; Cannon, Paula M PM; Sidhu, Sachdev S SS; Sicheri, Frank F; Durocher, Daniel D
Publication Date: 2018-01

Variant appearance in text: HR: P69L
PubMed Link: 29176614
Variant Present in the following documents:
  • Main text
  • nihms914739.pdf
View BVdb publication page