Published July 21, 2021 | Version v2
Dataset Open

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

Authors/Creators

  • 1. Bernt
  • 2. Sonja

Description

#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

Files

PNKP_Supplementary_Files.zip

Files (1.2 MB)

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md5:869baa3080a75e263bf51df8ae288d31
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