Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.G97_G99del0
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ACADM

NM_000016.6:p.G97_G99del0

Associated Papers

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Arnold GL et al.

Molecular Genetics and Metabolism, 2010

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.

Nichols MJ et al.

American Journal of Medical Genetics. Part A, 2008

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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."