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Year | Number of Results |
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2014 | 1 |
2024 | 0 |
PubMed (cited) for id: 613453
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Copy number variants are a common cause of non-syndromic hearing loss.
Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014.
Genome Med. 2014.
PMID: 24963352
Free PMC article.
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M.
Sirmaci A, et al.
Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6.
Am J Hum Genet. 2010.
PMID: 20451170
Free PMC article.
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