PC c.1705A>G ;(p.T569A)

Variant ID: 11-66620030-T-C

NM_001040716.1(PC):c.1705A>G;(p.T569A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PC: 1705A>G; Thr569Ala
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: PC: 1705A>G
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

Molecular Genetics And Metabolism
Wang, Dong D; Yang, Hong H; De Braganca, Kevin C KC; Lu, Jiesheng J; Yu Shih, Ling L; Briones, Paz P; Lang, Tim T; De Vivo, Darryl C DC
Publication Date: 2008

Variant appearance in text: PC: 1705A>G; T569A
PubMed Link: 18676167
Variant Present in the following documents:
  • Main text
View BVdb publication page