Data files for manuscript "Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain"

#2021-08-26 #Summary This ZIP-file contains the Excel files used for the clinical and variant analyses of the PNKP protein/gene for the manuscript "Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain". #Folder structure ./ (parent directory containing this README file and all subfolders) ./Clinical/ (contains an Excel sheet with complete clinical data of 4 affected individuals) ./Variants/ (contains an Excel sheet with all variant annotation and domain information used in 6 sheets) #Files and checksums 4B5BE914E77EB6511DF3DB94C6918E45 ./Clinical/FileS2_PNKP_Clinical.xlsx 0228C6EF543D597C1C800B8D78E3097D ./Variants/FileS3_PNKP_Variants.xlsx

Keywords

splicing, prenatal, intellectual disability, microcephaly, PNKP, exome

Impact byBIP!

	selected citations These citations are derived from selected sources. This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	0
	popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.	Average
	influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).	Average
	impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.	Average