ACADS c.531G>A ;(p.W177*)

Variant ID: 12-121175698-G-A

NM_000017.2(ACADS):c.531G>A;(p.W177*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Molecular Genetics And Metabolism Reports
Maguolo, A A; Rodella, G G; Dianin, A A; Nurti, R R; Monge, I I; Rigotti, E E; Cantalupo, G G; Salviati, L L; Tucci, S S; Pellegrini, F F; Molinaro, G G; Lupi, F F; Tonin, P P; Pasini, A A; Campostrini, N N; Ion Popa, F F; Teofoli, F F; Vincenzi, M M; Camilot, M M; Piacentini, G G; Bordugo, A A
Publication Date: 2020-09

Variant appearance in text: ACADS: Trp177*
PubMed Link: 32793418
Variant Present in the following documents:
  • Main text
  • mmc1.xlsx, sheet 1
  • main.pdf
View BVdb publication page