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As part of a study with @InfoUMA, we were able to identify a high-resolution map of pathogenic phenotypes associated with their respective significant genomic regions and a new powerful tool for diagnosis of currently uncharacterized mutations. Read here:
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RT @manuelcorpas: MT @decipher_wtsi: Systematic identification of phenotypically enriched loci - using DECIPHER data. https://t.co/TKNVOlaz…
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MT @decipher_wtsi: Systematic identification of phenotypically enriched loci - using DECIPHER data. https://t.co/TKNVOlaz10