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Browsing Otorhinolaryngology by Subject "Autosomal recessive nonsyndromic hearing loss"

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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

Kabahuma, Rosemary Ida; Schubert, Wolf-Dieter; Labuschagne, Christiaan; Yan, Denise; Pepper, Michael Sean; Liu, Xue-Zhong (Wiley Open Access, 2022-10)

BACKGROUND : DFNB28, a recessively inherited nonsyndromic form of deafness in humans, is caused by mutations in the TRIOBP gene (MIM #609761) on chromosome 22q13. Its protein TRIOBP helps to tightly bundle F-actin filaments, ...

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