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Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT, Askew JW, Talebizadeh Z, Huygen PLM, Eudy J, Kenyon J, Hoover D, Hildebrand MS, Smith KR, Bahlo M, Kimberling WJ, Smith RJH, Azaiez H, Smith SD. Booth KT, et al. Genet Med. 2019 Apr;21(4):948-954. doi: 10.1038/s41436-018-0285-0. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245514 Free PMC article.
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