Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.W275*
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OAT

NM_000274.4:p.W275*

Associated Papers

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

Smith PJ et al.

Human Molecular Genetics, 2006

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

Liu HX et al.

Nature Genetics, 2001

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.

Molaei Ramshe S et al.

Journal of Ophthalmic & Vision Research, 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."