Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.K60_V61Splc
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HADHA

NM_000182.5:p.K60_V61Splc

Associated Papers

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

Andresen BS et al.

American Journal of Human Genetics, 2001

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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."