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Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
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Supplement: MGG3-12-e2357-s005.xlsx › Sheet1
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
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The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
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