Sentence examples for mutation database for from inspiring English sources

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We here report a new global mutation database for DMD, and outline how this can be used for genetic analysis and development of genetic therapies.

Identification of these novel mutations suggests that any given population should develop a mutation database for its programme of breast cancer screening.

To predict the Mendelian diseases risks of the individual, we scanned an in-house human mutation database for each SNP of the Mongolian genome.

Importantly, this unified mutation database for the major neurodegenerative brain diseases will better accommodate the clinicogenetic overlaps between PD, AD, and FTLD.

24 Genetic data compiled in Universal Mutation Database for Dysferlin (UMD-DYSF, v.1.1 26 April 2013, http://www.umd.be/DYSF/) 24 list 337 disease-causing mutations that have been found in 725 patients worldwide.

An ongoing concern in studies of the dysferlinopathies is that in ~17% of patients with this recessive disorder (described in Universal Mutation Database for Dysferlin (UMD-DYSF, v.1.1 26 April 2013, http://www.umd.be/DYSF/) 24), only one disease-causing mutation is identified.

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Analysis of the p53 exon 5 mutation spectrum in mutation databases for lung cancer reveals frequent GC > AT transitions, several of which occur at non-CpG sequences.

It might be helpful to utilize a number of locus-specific mutation databases for specific diseases or genes such as the HbVar database [31] for human hemoglobin variations and thalassemia mutations, and the IDR database [32] for immunodeficiency mutations.

In this article, we examine DNA losses, but do note that it is possible that loss of these same genes could also occur via methylation, altered microRNA regulation, and/or somatic mutation, although the last of these has yet to be found when searching current somatic mutation databases for RAD17/RAD50/RAP80.

Interestingly, this specific S599G substitution has been identified in male patients with androgen insensitivity syndrome (AIS) [43], [44] and is catalogued in the McGill University's AR gene mutations database for AIS [http://androgendb.mcgill.ca], but has not been previously linked with prostate cancer.

A new approach to analyze the p53 mutation database of the European Molecular Biology Laboratory for a comparison of mutation spectra is described, with the aim of investigating organ specificity of etiological factors and putative organ-to-organ relationships in cancer pathogenesis.

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