This page shows the publications Kevin Booth has written about Frameshift Mutation.
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. Hum Genet. 2020 Dec; 139(12):1565-1574.
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss. Ann Otol Rhinol Laryngol. 2015 May; 124 Suppl 1:169S-76S.
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. Sci Rep. 2020 04 10; 10(1):6213.
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS). J Hum Genet. 2020 Jul; 65(7):609-617.
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