Elucidation of repeat motifs R1‐ and R2‐related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals

por Kabahuma, Rosemary Ida, Schubert, Wolf‐Dieter, Labuschagne, Christiaan, Yan, Denise, Pepper, Michael Sean, Liu, Xue‐Zhong
Publicado 2022

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Comp...

por Kabahuma, Rosemary Ida, Schubert, Wolf-Dieter, Labuschagne, Christiaan, Yan, Denise, Blanton, Susan Halloran, Pepper, Michael Sean, Liu, Xue Zhong
Publicado 2021