Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.Q311_F312Splc
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ACADS

NM_000017.4:p.Q311_F312Splc

Associated Papers

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.

Liu N et al.

Jama Network Open, 2021

34251446 (PubMed )
Supplement: jamanetwopen-e2114155-s001.pdf

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Alaimo JT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32439973 (PubMed )
Supplement: NIHMS1603460-supplement-Supplemental_Data.xlsx › Supplementary_Table_2
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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."