Varaico: Literature-Extracted Genetic Variants

Gene:UNG
Variant:p.F251S
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UNG

NM_080911.3:p.F251S

Associated Papers

Putative modifier genes in mevalonate kinase deficiency.

Marcuzzi A et al.

Molecular Medicine Reports, 2016

A robust, sensitive assay for genomic uracil determination by LC/MS/MS reveals lower levels than previously reported.

Galashevskaya A et al.

Dna Repair, 2013

Variation in base excision repair capacity.

Wilson DM et al.

Mutation Research, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Hyper-IgM syndromes.

Durandy A et al.

Current Opinion in Rheumatology, 2006

Defects of class-switch recombination.

Notarangelo LD et al.

The Journal of Allergy and Clinical Immunology, 2006

B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil.

Kavli B et al.

The Journal of Experimental Medicine, 2005

The hyper IgM syndrome--an evolving story.

Etzioni A et al.

Pediatric Research, 2004

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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."