FDXR c.1227A>G ;(p.T409=)

Variant ID: 17-72859316-T-C

NM_024417.2(FDXR):c.1227A>G;(p.T409=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: FDXR: T409T
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Association of variants m.T16172C and m.T16519C in whole mtDNA sequences with high altitude pulmonary edema in Han Chinese lowlanders.

Bmc Pulmonary Medicine
Wang, Yan Y; Huang, Xuewen X; Peng, Fujun F; Han, Huiling H; Gu, Yanan Y; Liu, Xin X; Feng, Zhichun Z
Publication Date: 2022-02-25

Variant appearance in text: ADR: 1227A>G
PubMed Link: 35216582
Variant Present in the following documents:
  • 12890_2021_1791_MOESM3_ESM.xlsx, sheet 1
  • 12890_2021_1791_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page