RT @imarmean: WG: example of 46y male with calcifications on brain, deep phenotyping did not find anything conclusive, luckily a recent pap…
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WG: example of 46y male with calcifications on brain, deep phenotyping did not find anything conclusive, luckily a recent paper showed similar calcification scans due to mutations in SNORD118, Sanger seq confirmed the mutation in the patient. Yay! https://
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Time to think outside the box. Great example @NatureGenet https://t.co/QIpnCTc7pn
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