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 External Resources

 insight....er.pdfhttps://insight.jci.org/articles/view/173484/version/2/high-res-pdf/render.pdf  Article fulltext

 SCV005627764https://www.ncbi.nlm.nih.gov/clinvar/variation/SCV005627764  NCBI clinvar (SCV005627764)

 9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606  NCBI taxonomy (human, Homo sapiens)

 7955https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=7955  NCBI taxonomy (zebrafish, Danio rerio)

 616294https://www.omim.org/entry/616294  OMIM identifier (616294, COLE-CARPENTER SYNDROME 2; CLCRP2)

 0000-0003-4300-8224https://orcid.org/0000-0003-4300-8224  ORCID identifier (Nina Bögershausen)

 0000-0002-0953-6210https://orcid.org/0000-0002-0953-6210  ORCID identifier (Büsranur Cavdarli)

 0000-0001-9664-2785https://orcid.org/0000-0001-9664-2785  ORCID identifier (Taylor Hanta Nagai)

 0000-0002-3354-1634https://orcid.org/0000-0002-3354-1634  ORCID identifier (Miroslav P. Milev)

 0000-0003-2262-9056https://orcid.org/0000-0003-2262-9056  ORCID identifier (Alexander Wolff)

 0000-0002-6843-0862https://orcid.org/0000-0002-6843-0862  ORCID identifier (Mahsa Mehranfar)

 0000-0002-5942-2924https://orcid.org/0000-0002-5942-2924  ORCID identifier (Julia Schmidt)

 0000-0002-8657-6005https://orcid.org/0000-0002-8657-6005  ORCID identifier (Dharmendra Choudhary)

 0000-0001-9120-1382https://orcid.org/0000-0001-9120-1382  ORCID identifier (Lukas Cyganek)

 0000-0001-9328-7108https://orcid.org/0000-0001-9328-7108  ORCID identifier (Djenann Saint-Dic)

 0000-0002-0837-3050https://orcid.org/0000-0002-0837-3050  ORCID identifier (Arne Zibat)

 0000-0003-3644-2022https://orcid.org/0000-0003-3644-2022  ORCID identifier (Karl Köhrer)

 0000-0001-7953-9903https://orcid.org/0000-0001-7953-9903  ORCID identifier (Tassilo Erik Wollenweber)

 0000-0003-2812-6492https://orcid.org/0000-0003-2812-6492  ORCID identifier (Dagmar Wieczorek)

 0000-0003-4372-1521https://orcid.org/0000-0003-4372-1521  ORCID identifier (Janine Altmüller)

 0000-0002-6978-016Xhttps://orcid.org/0000-0002-6978-016X  ORCID identifier (Tatiana Borodina)

 0000-0003-2926-5064https://orcid.org/0000-0003-2926-5064  ORCID identifier (Michael Sacher)

 0000-0002-2977-3619https://orcid.org/0000-0002-2977-3619  ORCID identifier (Ela W. Knapik)

 0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198  ORCID identifier (Gökhan Yigit)

 0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364  ORCID identifier (Bernd Wollnik)

 033fqnp11https://ror.org/033fqnp11  ROR identifier (033fqnp11, Ankara Bilkent City Hospital)

 05ryemn72https://ror.org/05ryemn72  ROR identifier (05ryemn72, Ankara Yıldırım Beyazıt University)

 0493xsw21https://ror.org/0493xsw21  ROR identifier (0493xsw21, Berlin Institute of Health at Charité - Universitätsmedizin Berlin)

 0420zvk78https://ror.org/0420zvk78  ROR identifier (0420zvk78, Concordia University)

 006k2kk72https://ror.org/006k2kk72  ROR identifier (006k2kk72, Düsseldorf University Hospital)

 01s1h3j07https://ror.org/01s1h3j07  ROR identifier (01s1h3j07, Fraunhofer Institute for Translational Medicine and Pharmacology)

 031t5w623https://ror.org/031t5w623  ROR identifier (031t5w623, German Centre for Cardiovascular Research)

 04kwvgz42https://ror.org/04kwvgz42  ROR identifier (04kwvgz42, Hacettepe University)

 038t36y30https://ror.org/038t36y30  ROR identifier (038t36y30, Heidelberg University)

 04p5ggc03https://ror.org/04p5ggc03  ROR identifier (04p5ggc03, Max Delbrück Center for Molecular Medicine)

 01pxwe438https://ror.org/01pxwe438  ROR identifier (01pxwe438, McGill University)

 05xy1nn52https://ror.org/05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 021ft0n22https://ror.org/021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 02vm5rt34https://ror.org/02vm5rt34  ROR identifier (02vm5rt34, Vanderbilt University)

 SCR_018361https://scicrunch.org/resolver/SCR_018361  SciCrunch identifier (RRID:SCR_018361, Biorender)

 SCR_016884https://scicrunch.org/resolver/SCR_016884  SciCrunch identifier (RRID:SCR_016884, clusterProfiler)

 SCR_002338https://scicrunch.org/resolver/SCR_002338  SciCrunch identifier (RRID:SCR_002338, dbSNP)

 SCR_006552https://scicrunch.org/resolver/SCR_006552  SciCrunch identifier (RRID:SCR_006552, DECIPHER)

 SCR_012802https://scicrunch.org/resolver/SCR_012802  SciCrunch identifier (RRID:SCR_012802, edgeR)

 SCR_002344https://scicrunch.org/resolver/SCR_002344  SciCrunch identifier (RRID:SCR_002344, Ensembl)

 SCR_014964https://scicrunch.org/resolver/SCR_014964  SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)

 SCR_002798https://scicrunch.org/resolver/SCR_002798  SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)

 SCR_001888https://scicrunch.org/resolver/SCR_001888  SciCrunch identifier (RRID:SCR_001888, HGMD)

 SCR_007027https://scicrunch.org/resolver/SCR_007027  SciCrunch identifier (RRID:SCR_007027, HPRD - Human Protein Reference Database)

 SCR_016387https://scicrunch.org/resolver/SCR_016387  SciCrunch identifier (RRID:SCR_016387, Illumina NovaSeq 6000 Sequencing System)

 SCR_024569https://scicrunch.org/resolver/SCR_024569  SciCrunch identifier (RRID:SCR_024569, Illumina NovaSeq X)

 SCR_012773https://scicrunch.org/resolver/SCR_012773  SciCrunch identifier (RRID:SCR_012773, KEGG)

 SCR_004726https://scicrunch.org/resolver/SCR_004726  SciCrunch identifier (RRID:SCR_004726, Pfam)

 SCR_004846https://scicrunch.org/resolver/SCR_004846  SciCrunch identifier (RRID:SCR_004846, PubMed)

 SCR_001905https://scicrunch.org/resolver/SCR_001905  SciCrunch identifier (RRID:SCR_001905, R Project for Statistical Computing)

 SCR_013027https://scicrunch.org/resolver/SCR_013027  SciCrunch identifier (RRID:SCR_013027, RSEM)

 SCR_015899https://scicrunch.org/resolver/SCR_015899  SciCrunch identifier (RRID:SCR_015899, STAR)

 SCR_005780https://scicrunch.org/resolver/SCR_005780  SciCrunch identifier (RRID:SCR_005780, UCSC Genome Browser)

 SCR_002380https://scicrunch.org/resolver/SCR_002380  SciCrunch identifier (RRID:SCR_002380, UniProt)

 mbexc.de...eisis/https://mbexc.de/sec24c-deficiency-causes-trafficking-and-glycosylation-abnormalities-in-an-epileptic-encephalopathy-with-cataracts-and-dyserythropoeisis/  Website entry (mbexc.de)