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To figure out how a gene leads to disease, it needs to be analysed in both loss-of-function (LOF) and gain-of-function (GOF) studies. What do LOF and GOF studies tell you about a gene and why are they...

To figure out how a gene leads to disease, it needs to be analysed in both loss-of-function (LOF) and gain-of-function (GOF) studies. What do LOF and GOF studies tell you about a gene and why are they important?
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From the LOF and GOF studies of a gene, following features were found - mutation type, reference allele, substituted allele, mutation impact, protein domain and sub-cellular location which can discriminate between LOF AND GOF mutations.These are important as it is useful in evaluating the significance of mutations on function of proteins based on evolutionary conservation of the sites of mutations.

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