Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.V9M
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CRAT

NM_000755.5:p.V9M

Associated Papers

The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH).

Aydin M et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2018

Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2).

Li Y et al.

Human Genetics, 2004

Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha.

Hegele RA et al.

Journal of Human Genetics, 2001

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

Marquardt A et al.

Human Molecular Genetics, 1998

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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."