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Page 1
Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Clin Chim Acta. 2021 Dec;523:10-18. doi: 10.1016/j.cca.2021.08.030. Epub 2021 Aug 31.
Clin Chim Acta. 2021.
PMID: 34478686
Review.
Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review.
Zhao A, Shu D, Zhang D, Yang B, Hong L, Wang A, Yao R, Wang J, Lv H, Wang J, Shen Y, Wang H, Gu Q.
Zhao A, et al.
Int J Dev Neurosci. 2022 Feb;82(1):96-103. doi: 10.1002/jdn.10154. Epub 2021 Nov 4.
Int J Dev Neurosci. 2022.
PMID: 34708882
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Long-read sequencing identified a novel nonsense and a de novo missense of PPA2 in trans in a Chinese patient with autosomal recessive infantile sudden cardiac failure.
Zhao A, Shen J, Ding Y, Sheng M, Zuo M, Lv H, Wang J, Shen Y, Wang H, Sun L.
Zhao A, et al.
Clin Chim Acta. 2021 Aug;519:163-171. doi: 10.1016/j.cca.2021.03.029. Epub 2021 Apr 5.
Clin Chim Acta. 2021.
PMID: 33826954
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Promoter hypomethylation of COMT in human placenta is not associated with the development of pre-eclampsia.
Zhao A, Cheng Y, Li X, Li Q, Wang L, Xu J, Xiang Y, Xing Q, He L, Zhao X.
Zhao A, et al.
Mol Hum Reprod. 2011 Mar;17(3):199-206. doi: 10.1093/molehr/gaq092. Epub 2010 Nov 3.
Mol Hum Reprod. 2011.
PMID: 21047975
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Lack of support for association between the copy number variants in the FCGR locus and schizophrenia: a case control study.
Zhao A, Xiang Y, Xu J, Li Q, Wang L, Xing Q, Zhang Z, Liu Y, Feng G, He L, Zhao X.
Zhao A, et al.
Neurosci Lett. 2012 Aug 1;522(2):85-91. doi: 10.1016/j.neulet.2012.04.037. Epub 2012 May 1.
Neurosci Lett. 2012.
PMID: 22580203
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