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Gene therapy is another molecular technique that could replace disease causing gene in the cell.
This is where a ''normal'' gene is inserted into the genome to replace an ''abnormal'' disease causing gene.
This approach can be very helpful if she has only a vague idea of the disease causing gene.
There are also cases for which our method does return significant genes among which the known disease causing gene can however not be found.
With a rapidly growing number of on-line resources for gene variants collections, the opportunity to apply machine learning algorithms to well curated disease causing gene sets becomes increasingly desirable.
MLC1 is the disease causing gene for autosomal recessively inherited megalencephalic leukoencephalopathy with subcortical cysts [ 5- 7].
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CRISPR knockins have also corrected disease-causing gene defects in adult mice, such as the mutations that cause hemophilia and sickle cell anemia.
In the cases of recessive genetic conditions-diseases that manifest usually only if an individual receives a defective gene for some important enzyme from both parents-evolutionary biology suggests protective benefits are conferred on some carriers (people with one defective (disease-causing) gene who don't have the condition itself).
Some mutations may lead to extensive downstream cascades that may be reflected in network patterns that are too broad to effectively pinpoint the disease-causing gene.
Ultimately, the role of putative "disease-causing" gene(s) that are disrupted within CNVs will require additional confirmatory molecular genetic and molecular biologic studies.
In this study we expanded a screen to identify loci that genetically interact with the Kallmann syndrome disease-causing gene kal-1.
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