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In addition to these mutations collected from published literature, we also submitted information on gene variants, including one possible novel pathogenic mutation in the KCNH2 splice site found in ten Chinese families with documented arrhythmias.
There are numerous creative variants, including one with creamy, peppery sea urchin laid over disks of scallop.
It will come with variants, including one tentatively called the California Edition that sheds its walls and top to open up like a Jeep — but does so at the push of a button.
In this study, we detected a maximum of 44 variants including one putative (23 at a minimum).
TrkC, a receptor tyrosine kinase has a number of naturally occurring splice variants including one with a 14 residues insertion between subdomain VII and VIII in the C-terminal lobe of the kinase domain.
Mutation screening revealed a total of five distinct variants, including one novel mutation (c.1346C>T; p.T449I) and four previously described variants (c.1230_1233delCTCT, c.1362_1377del16, c.1328G>T, and IVS6 + 16G>A).
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These 25 variants included one coding variant (c.1159G > A, p. R387H, 15113940 bp) and 24 intronic variants in ADAM23.
These variants included one coding variant (c.1159G > A, p. R387H at 15113940 bp) that was identified in our previous Sanger sequencing experiment and was used to define the risk haplotype [ 14].
These WDR36 variants included ones found in control populations, suggesting WDR36 as a modifier gene that requires another gene defect or unknown risk factor for the onset of POAG.
These days, a Robinson cost around £300 with cheaper variants available, including one with a blacklight that removes potentially neighbour-upsetting glare.
Excess SRSF1 promoted an increase in S6K1 variants by including one to three alternative cassette exons between exons 6 and 7 that are normally skipped [ 73] and include a proper stop codon.
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