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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Riggs ER, Nelson T, Merz A, Ackley T, Bunke B, Collins CD, Collinson MN, Fan YS, Goodenberger ML, Golden DM, Haglund-Hazy L, Krgovic D, Lamb AN, Lewis Z, Li G, Liu Y, Meck J, Neufeld-Kaiser W, Runke CK, Sanmann JN, Stavropoulos DJ, Strong E, Su M, Tayeh MK, Kokalj Vokac N, Thorland EC, Andersen E, Martin CL. Riggs ER, et al. Among authors: krgovic d. Hum Mutat. 2018 Nov;39(11):1650-1659. doi: 10.1002/humu.23610. Hum Mutat. 2018. PMID: 30095202 Free PMC article.
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
Vergult S, Krgovic D, Loeys B, Lyonnet S, Liedén A, Anderlid BM, Sharkey F, Joss S, Mortier G, Menten B. Vergult S, et al. Among authors: krgovic d. Eur J Hum Genet. 2011 Oct;19(10):1032-7. doi: 10.1038/ejhg.2011.67. Epub 2011 Apr 20. Eur J Hum Genet. 2011. PMID: 21505450 Free PMC article.
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