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Looking at the origin of the manually annotated spice variants for Defb42 it is noticeable that all cDNA clones representing the main coding variant are derived from the adult male reproductive tract, specifically the epididymis.
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The main coding properties are reviewed.
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
A novel nonsynonymous coding variant (R7H) in the first exon of MYOC was identified.
We found no common coding variant associated with disease.
This result combines with the coding variant in the gene.
The additional SNPs include the nonsynonymous coding variants within RGD1311946 and Gpr152, as well as a coding variant within Cpt1a.
These 25 variants included one coding variant (c.1159G > A, p. R387H, 15113940 bp) and 24 intronic variants in ADAM23.
In some coding loci, 2 3 coding variants were accompanied by anywhere from 1 to 50 non-coding variants.
After removing coding variants and variants with population frequency >1%, we obtained 272 ClinVar DAVs as pathogenic.
look at the main code in CBGTC.py).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com