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A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
Eur J Med Genet. 2016 Apr;59(4):204-9. doi: 10.1016/j.ejmg.2016.02.007. Epub 2016 Feb 23.
Eur J Med Genet. 2016.
PMID: 26923739
Clk post-transcriptional control denoises circadian transcription both temporally and spatially.
Lerner I, Bartok O, Wolfson V, Menet JS, Weissbein U, Afik S, Haimovich D, Gafni C, Friedman N, Rosbash M, Kadener S.
Lerner I, et al. Among authors: gafni c.
Nat Commun. 2015 May 8;6:7056. doi: 10.1038/ncomms8056.
Nat Commun. 2015.
PMID: 25952406
Free PMC article.
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