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The functionality of African-specific variants in the TGFB1 regulatory region and their potential role in HIVAN.
Clin Exp Nephrol. 2018 Aug;22(4):764-772. doi: 10.1007/s10157-017-1516-4. Epub 2017 Dec 4.
Clin Exp Nephrol. 2018.
PMID: 29204904
The African-387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis.
Nel M, Buys JM, Rautenbach R, Mowla S, Prince S, Heckmann JM.
Nel M, et al. Among authors: buys jm.
J Hum Genet. 2016 Apr;61(4):307-16. doi: 10.1038/jhg.2015.146. Epub 2015 Dec 3.
J Hum Genet. 2016.
PMID: 26632886
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