Sentence examples for mutation database at from inspiring English sources

The Pompe disease mutation database at http://www.pompecenter.nl is a handy tool to quickly learn about the effect of sequence variations in the GAA gene.

Identified mutations were compared with the p53 mutation database maintained at Hôpital Necker-Enfants Malades in Paris, France [ 38].

We used stringent criteria for the classification of mutations; only those included in the p53 mutation database maintained at Hôpital Necker-Enfants Malades were considered true mutations.

The FH HUS mutation database is available at the following URL http://www.FH HUS.org.

More than 130 mutations have been cataloged in Human Gene Mutation Database (HGMD) so far, at least 128 of which being reported as the cause of KD.

In contrast to the PD Mutation Database, in the AD&FTLD Mutation Database, all information is stored at the level of the family, including family averages and ranges of clinical parameters such as ages at onset and death.

This variant had not been reported at the BIC mutation database although it had formerly been found in a consanguineous Fanconi anemia patient [ 33].

The summary of EOFAD mutations is maintained at the Alzheimer Disease and Frontotemporal Dementia Mutation Database [ 17, 18].

The HGMD® (43) at the Institute of Medical Genetics in Cardiff is a commercial mutation database providing information on somatic and germline mutations.

The analysis of contralateral disease, non-breast primaries and survival has been enriched with additional patients diagnosed at the age of ⩽30 years from our mutation database.

The second type of experiment looks at the performance of the tools in the context of mutation database curation.