ACADS c.737G>A ;(p.C246Y)

Variant ID: 12-121176195-G-A

NM_000017.2(ACADS):c.737G>A;(p.C246Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Frontiers In Genetics
Wang, Ting T; Ma, Jun J; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Li, Hong H; Xiang, Jingjing J; Wang, Benjing B
Publication Date: 2019

Variant appearance in text: ACADS: 737G>A
PubMed Link: 31737040
Variant Present in the following documents:
  • Main text
  • fgene-10-01052.pdf
View BVdb publication page



New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.

Frontiers In Genetics
Wang, Benjing B; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Ma, Jun J; Li, Hong H; Wang, Ting T
Publication Date: 2019

Variant appearance in text: ACADS: 737G>A
PubMed Link: 31620161
Variant Present in the following documents:
  • Main text
  • fgene-10-00811.pdf
View BVdb publication page