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Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Hum Genet. 2020 Dec;139(12):1565-1574. doi: 10.1007/s00439-020-02197-5. Epub 2020 Jun 19.
Hum Genet. 2020.
PMID: 32562050
Free PMC article.
Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.
Noman M, Ishaq R, Bukhari SA, Ahmed ZM, Riazuddin S.
Noman M, et al.
Genes (Basel). 2019 Dec 10;10(12):1031. doi: 10.3390/genes10121031.
Genes (Basel). 2019.
PMID: 31835641
Free PMC article.
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Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.
Zafar S, Shahzad M, Ishaq R, Yousaf A, Shaikh RS, Akram J, Ahmed ZM, Riazuddin S.
Zafar S, et al.
Genes (Basel). 2020 Aug 22;11(9):978. doi: 10.3390/genes11090978.
Genes (Basel). 2020.
PMID: 32842620
Free PMC article.
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