ACADS c.157T>G ;(p.L53V)

Variant ID: 12-121164939-T-G

NM_000017.2(ACADS):c.157T>G;(p.L53V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Developmental Disabilities Research Reviews
Waisbren, Susan E SE; Landau, Yuval Y; Wilson, Jenna J; Vockley, Jerry J
Publication Date: 2013

Variant appearance in text: SCAD: 157T>G
PubMed Link: 23798014
Variant Present in the following documents:
  • Main text
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