This page shows the publications Kevin Booth has written about Exons.
Exonic mutations and exon skipping: Lessons learned from DFNA5. Hum Mutat. 2018 03; 39(3):433-440.
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. Hum Genet. 2020 Dec; 139(12):1565-1574.
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? Int J Mol Sci. 2020 May 31; 21(11).
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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