FDXR c.431C>T ;(p.P144L)

Variant ID: 17-72862329-G-A

NM_024417.2(FDXR):c.431C>T;(p.P144L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.

Biomolecules
Camponeschi, Francesca F; Ciofi-Baffoni, Simone S; Calderone, Vito V; Banci, Lucia L
Publication Date: 2022-07-21

Variant appearance in text: FDXR: 431C>T; Pro144Leu
PubMed Link: 35883565
Variant Present in the following documents:
  • Main text
  • biomolecules-12-01009.pdf
View BVdb publication page



Integrated analysis of the molecular pathogenesis of FDXR-associated disease.

Cell Death & Disease
Slone, Jesse D JD; Yang, Li L; Peng, Yanyan Y; Queme, Luis F LF; Harris, Belinda B; Rizzo, Stacey J Sukoff SJS; Green, Torrian T; Ryan, Jennifer L JL; Jankowski, Michael P MP; Reinholdt, Laura G LG; Huang, Taosheng T
Publication Date: 2020-06-04

Variant appearance in text: FDXR: 431C>T
PubMed Link: 32499495
Variant Present in the following documents:
  • 41419_2020_Article_2637.pdf
View BVdb publication page



Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.

Trends In Biochemical Sciences
Maio, Nunziata N; Rouault, Tracey A TA
Publication Date: 2020-05

Variant appearance in text: FDXR: P144L
PubMed Link: 32311335
Variant Present in the following documents:
  • Main text
View BVdb publication page