Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.M328V
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ACADM

NM_000016.6:p.M328V

Associated Papers

Prevalence and Mutation Analysis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.

Hu H et al.

International Journal of Neonatal Screening, 2025

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1

[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].

Tong F et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

Convert your favorite protein modeling program into a mutation predictor: "MODICT".

Tanyalcin I et al.

Bmc Bioinformatics, 2016

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.

Sturm M et al.

Plos One, 2012

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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."