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2018 | 1 |
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17.
Hum Genet. 2018.
PMID: 30019117
Free PMC article.
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
Li X, Xie H, Chen Q, Yu X, Yi Z, Li E, Zhang T, Wang J, Zhong J, Chen X.
Li X, et al.
BMC Med Genet. 2017 Nov 15;18(1):131. doi: 10.1186/s12881-017-0486-4.
BMC Med Genet. 2017.
PMID: 29141583
Free PMC article.
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Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia.
Chen J, Liu J, Zhou Y, Liu S, Liu G, Zuo Y, Wu Z, Wu N, Qiu G.
Chen J, et al.
J Mol Med (Berl). 2017 Dec;95(12):1303-1313. doi: 10.1007/s00109-017-1602-9. Epub 2017 Oct 23.
J Mol Med (Berl). 2017.
PMID: 29063142
Review.
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