1 | DFNA67, OSBPL2
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| A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
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| Wu N, Husile H, Yang L, Cao Y, Li X, Huo W, Bai H, Liu Y, Wu Q.
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| BMC Med Genet 20(1):43. doi: 10.1186/s12881-019-0781-3.
2019
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2 | DFNA67, OSBPL2
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| OSBP-related protein 2 (ORP2): Unraveling its functions in cellular lipid/carbohydrate metabolism, signaling and F-actin regulation.
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| Olkkonen VM, Koponen A, Arora A.
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| J Steroid Biochem Mol Biol 192:105298. doi: 10.1016/j.jsbmb.2019.01.016. Epub 2019 Feb 2. Review.
2019
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3 | DFNA67, OSBPL2
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| OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
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| Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ.
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| Orphanet J Rare Dis 10:15. doi: 10.1186/s13023-015-0238-5.
2015
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4 | DFNA67, OSBPL2
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| Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
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| Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X.
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| Genet Med 17(3):210-8. doi: 10.1038/gim.2014.90. Epub 2014 Jul 31.
2015
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