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Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
Mol Genet Genomic Med. 2022 Oct;10(10):e2015. doi: 10.1002/mgg3.2015. Epub 2022 Aug 27.
Mol Genet Genomic Med. 2022.
PMID: 36029164
Free PMC article.
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Blanton SH, Pepper MS, Liu XZ.
Kabahuma RI, et al.
Genes (Basel). 2021 Feb 15;12(2):274. doi: 10.3390/genes12020274.
Genes (Basel). 2021.
PMID: 33671976
Free PMC article.
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