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2020 | 1 |
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Genet Med. 2020 Oct;22(10):1633-1641. doi: 10.1038/s41436-020-0864-8. Epub 2020 Jun 24.
Genet Med. 2020.
PMID: 32576985
Free PMC article.
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
Reinstein E, Orvin K, Tayeb-Fligelman E, Stiebel-Kalish H, Tzur S, Pimienta AL, Bazak L, Bengal T, Cohen L, Gaton DD, Bormans C, Landau M, Kornowski R, Shohat M, Behar DM.
Reinstein E, et al.
Hum Mutat. 2015 Apr;36(4):439-42. doi: 10.1002/humu.22759. Epub 2015 Mar 16.
Hum Mutat. 2015.
PMID: 25645515
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