Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.T150fs
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ACADM

NM_000016.6:p.T150fs

Associated Papers

ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

Christen M et al.

Genes, 2022

36292732 (PubMed )
Supplement: genes-13-01847-s001.zip › Table_S3_Private_Variants__R1.xlsx › Private_homozygous_variants

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

Zhang R et al.

Scientific Reports, 2021

Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.

Woo HI et al.

The Korean Journal of Laboratory Medicine, 2011

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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."