Varaico: Literature-Extracted Genetic Variants

Gene:ACADSB
Variant:p.G96R
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ACADSB

NM_001609.4:p.G96R

Associated Papers

Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.

Zhuang DY et al.

Frontiers in Genetics, 2021

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

Wang T et al.

Frontiers in Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."