What is it about?
Mutation data (1990 to 2015) was gathered from publications, clinical and personal records was summarized to ease clinical service and genetic service.
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Why is it important?
it was important to have a collection of data in order to avoid unnecessary investigations and repetition of research projects, and to ease genetic testing in families and communities. Data was presented with terminology understood by practicing physicians. The collection of data is not representative of genetic load in omani community. It reflects interests of physicians in research in Oman.
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This page is a summary of: Repository of mutations from Oman: The entry point to a national mutation database, F1000Research, September 2015, Faculty of 1000, Ltd.,
DOI: 10.12688/f1000research.6938.1.
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