Top Tweets for #noncodingvariation
And here you can check the most important findings of our work on #IRD #IRDgenes #retinaisoforms #5UTR #5UTRcoverage #retina #rarediseases #WES #WGS #noncodingvariation #pathogenic5UTRvariants #MERTK #RDH12 For more, please read the manuscript π€ (highly recommended π)
Check out our preprint on combining a prioritization strategy and functional studies to nominate 5'UTR variants underlying inherited retinal disease #IRDs! Excellent work from Alfredo DueΓ±as Rey @ITN_StarT @DelpoMarta @Bouckaert_M @GenomicsEngland @elfridedebaere.
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