Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.F383Y
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CRAT

NM_000755.5:p.F383Y

Associated Papers

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Wataya K et al.

Human Mutation, 1998

[Identification of missense mutations and haplotyping of carnitine palmitoyltransferase II gene].

Akanuma J et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997

[Molecular analysis of a patient with carnitine palmitoyltransferase II deficiency].

Akanuma J et al.

Rinsho Shinkeigaku = Clinical Neurology, 1997

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

Bonnefont JP et al.

Molecular Aspects of Medicine, 0

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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."