Human DNA Polymerase Gamma Mutation Database specifications

Information


Unique identifier OMICS_01639
Name Human DNA Polymerase Gamma Mutation Database
Restrictions to use None
Maintained No

Taxon


  • Primates
    • Homo sapiens

Maintainer


This tool is not available anymore.

Human DNA Polymerase Gamma Mutation Database citation

library_books

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

2013
PMCID: 3570393
PMID: 23324391
DOI: 10.1186/1471-2377-13-8

[…] tions since parents are not alive and siblings are not available. Both the mutations p.T251I and p.P587L were reported several times in subjects showing multiple clinical phenotypes, according to the Human DNA Polymerase Gamma Mutation Database (http://tools.niehs.nih.gov/polg/). The missense mutation c.3556G>C was not listed in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP/) as wel […]

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