PC c.857A>G ;(p.Q286R)

Variant ID: 11-66637819-T-C

NM_001040716.1(PC):c.857A>G;(p.Q286R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole genome sequencing, analyses of drug resistance-conferring mutations, and correlation with transmission of Mycobacterium tuberculosis carrying katG-S315T in Hanoi, Vietnam.

Scientific Reports
Hang, Nguyen Thi Le NTL; Hijikata, Minako M; Maeda, Shinji S; Thuong, Pham Huu PH; Ohashi, Jun J; Van Huan, Hoang H; Hoang, Nguyen Phuong NP; Miyabayashi, Akiko A; Cuong, Vu Cao VC; Seto, Shintaro S; Van Hung, Nguyen N; Keicho, Naoto N
Publication Date: 2019-10-25

Variant appearance in text: PC: Q286R
PubMed Link: 31653940
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_51812.pdf
View BVdb publication page



Protein-Engineered Coagulation Factors for Hemophilia Gene Therapy.

Molecular Therapy. Methods & Clinical Development
Samelson-Jones, Benjamin J BJ; Arruda, Valder R VR
Publication Date: 2019-03-15

Variant appearance in text: PC: Q286R
PubMed Link: 30705923
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Journal Of Inherited Metabolic Disease
Baruteau, Julien J; Jameson, Elisabeth E; Morris, Andrew A AA; Chakrapani, Anupam A; Santra, Saikat S; Vijay, Suresh S; Kocadag, Huriye H; Beesley, Clare E CE; Grunewald, Stephanie S; Murphy, Elaine E; Cleary, Maureen M; Mundy, Helen H; Abulhoul, Lara L; Broomfield, Alexander A; Lachmann, Robin R; Rahman, Yusof Y; Robinson, Peter H PH; MacPherson, Lesley L; Foster, Katharine K; Chong, W Kling WK; Ridout, Deborah A DA; Bounford, Kirsten McKay KM; Waddington, Simon N SN; Mills, Philippa B PB; Gissen, Paul P; Davison, James E JE
Publication Date: 2017-05

Variant appearance in text: PC: 857A>G; Gln286Arg
PubMed Link: 28251416
Variant Present in the following documents:
  • 10545_2017_Article_22.pdf
View BVdb publication page