All individuals with variants in gene DCDC2

9 entries on 1 page. Showing entries 1 - 9.
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00032320 - PubMed: Schueler 2015, Journal: Schueler 2015 patient, unaffected heterozygous carrier parents ? yes United Kingdom (Great Britain) - - 0 - - NPHPRC see paper; 11m-hepatic fibrosis; 14y-end-stage renal disease (ESRD) from NPHP; ... 1 1 Johan den Dunnen
00032321 - PubMed: Schueler 2015, Journal: Schueler 2015 patient, unaffected heterozygous carrier parents - no Czech Republic - - 0 - - NPHPRC see paper; hepatic fibrosis; 2y-liver transplantation; no retinal degeneration, no cerebellar vermis hypoplasia, no hydrocephalus, no obesity, no bone disease 2 1 Johan den Dunnen
00065307 - - - M yes Morocco - - 0 - - ? Neonatal Sclerosing cholangitis 1 1 Muriel Girard
00065308 - - - F yes Morocco - - 0 - - ? Neonatal Sclerosing cholangitis 1 1 Muriel Girard
00275554 - - - - yes - - - 0 - - PFIC - 1 1 Andreas Janecke
00283248 - PubMed: Grati 2015, PubMed: Tlili 2005 - - - - - - 0 - - deafness - 1 1 Global Variome, with Curator vacancy
00283249 - PubMed: Schueler 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00283250 - PubMed: Schueler 2015, PubMed: Schueler 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00283251 - PubMed: Schueler 2015, PubMed: Schueler 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
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