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Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.
Mol Genet Metab. 2005 Jan;84(1):25-31. doi: 10.1016/j.ymgme.2004.09.014. Epub 2004 Nov 11.
Mol Genet Metab. 2005.
PMID: 15639192
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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