Varaico: Literature-Extracted Genetic Variants

Gene:EHHADH
Variant:p.A116A
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EHHADH

NM_001966.4:p.A116A

Associated Papers

Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.

Tsuchida S et al.

Journal of Oleo Science, 2012

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Ferdinandusse S et al.

American Journal of Human Genetics, 2006

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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."