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[Screening of LDLR gene mutations in nine patients with familial hypercholesterolemia].
Meng X. et al, (2018), Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 35, 783 - 786
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
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An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: The use of minigene assay in splicing analysis
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