Varaico: Literature-Extracted Genetic Variants

Gene:PCNA
Variant:p.R5H
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PCNA

NM_182649.2:p.R5H

Associated Papers

The African-387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis.

Nel M et al.

Journal of Human Genetics, 2016

Regulation of alternative splicing of tau exon 10.

Qian W et al.

Neuroscience Bulletin, 2014

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT et al.

American Journal of Human Genetics, 2007

RNase MRP RNA and human genetic diseases.

Martin AN et al.

Cell Research, 2007

The role of tau phosphorylation and cleavage in neuronal cell death.

Chun W et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2007

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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."