Varaico: Literature-Extracted Genetic Variants

Gene:ACADL
Variant:p.I243_K244insFs
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ACADL

NM_001608.4:p.I243_K244insFs

Associated Papers

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Zhang R et al.

Scientific Reports, 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

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.

Zhang W 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."