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Doublecortin mutations cluster in evolutionarily conserved functional domains.
Sapir T, Horesh D, Caspi M, Atlas R, Burgess HA, Wolf SG, Francis F, Chelly J, Elbaum M, Pietrokovski S, Reiner O. Sapir T, et al. Hum Mol Genet. 2000 Mar 22;9(5):703-12. doi: 10.1093/hmg/9.5.703. Hum Mol Genet. 2000. PMID: 10749977
Atg8: an autophagy-related ubiquitin-like protein family.
Shpilka T, Weidberg H, Pietrokovski S, Elazar Z. Shpilka T, et al. Genome Biol. 2011 Jul 27;12(7):226. doi: 10.1186/gb-2011-12-7-226. Genome Biol. 2011. PMID: 21867568 Free PMC article. Review.
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D. Adato A, et al. Eur J Hum Genet. 2002 Jun;10(6):339-50. doi: 10.1038/sj.ejhg.5200831. Eur J Hum Genet. 2002. PMID: 12080385
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