Data files and videos for manuscript "Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT"

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https://zenodo.org/record/5716334

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#2021-11-20 #Summary This ZIP-file contains the supplementary files of our ROBO1 study. Suppl. File S1 details the next-generation sequencing-based gene panel comprising 426 CKD-associated genes performed in ID 1. Suppl. File S2 contains a variant information and raw in silico data. Suppl. Videos SV1A and SV1B show cardiac valve anomalies comprising mitral valve prolapse in ID 1. Suppl. Video SV2 shows renal anomalies and hydroureter as documented in-vivo by microCT-scan of the mutant mice. #Folder structure ./ (parent directory containing this README file and all subfolders) ./Files/ (contains Excel Suppl. File S1 and Suppl.File S2) ./Videos/ (contains the Suppl. Videos) #Files and checksums Algorithm Hash Path --------- ---- ---- MD5 2BCB0774F8303FC5DBA2313DFD19FBEE Files\FileS1_Panel-Content.xlsx MD5 015F01832AE1C6610D9C1FB8902FDF17 Files\FileS2_Variants-and-Domains_2021-05-18.xlsx MD5 8BBE3DE1C21F161BCE07A2AFB4A6F7CD Videos\Supplementary Video SV1\Supplementary Video SV1.docx MD5 5EA354253D7E489B48EDFBDE59CFB798 Videos\Supplementary Video SV1\Supplementary Video SV1A.mov MD5 61796C4A5F7EAD79D642ED9D11514A95 Videos\Supplementary Video SV1\Supplementary Video SV1B.mov MD5 4098A23D5CE1C67C1D507D4DD5F4F866 Videos\Supplementary Video SV2\Lo_Robo mutant.mov MD5 D0B219332F227DBECF1A2A1A6AD0925A Videos\Supplementary Video SV2\Supplementary Video SV2.mov

创建时间：

2021-11-21