All individuals with variants in gene SLC25A13

178 entries on 2 pages. Showing entries 1 - 100.
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00112519 - PubMed: Mitchell 2009 - - - United States - - - - - ? - 1 8 Johan den Dunnen
00112520 - PubMed: Mitchell 2009 - - - United States - - - - - ? - 1 57 Johan den Dunnen
00112521 - PubMed: Mitchell 2009 - - - United States - - - - - ? - 1 5 Johan den Dunnen
00112522 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - CTLN2 - 2 1 Johan den Dunnen
00112523 - PubMed: Tazawa 2001 - - - - - - - - - NICCD - 2 1 Johan den Dunnen
00112524 - PubMed: Kobayashi 1999, OMIM:var0004 - - - - - - - - - CTLN2 - 2 1 Johan den Dunnen
00112525 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - CTLN2 - 2 9 Johan den Dunnen
00112526 - PubMed: Kobayashi 1999, OMIM:var0001 - - - - - - - - - CTLN2 - 2 1 Johan den Dunnen
00112527 - PubMed: Ohura 2001, OMIM:var0001 - - - Japan - - - - - NICCD favorable clinical course, all biochemical abnormalities normalized at 12m 2 1 Johan den Dunnen
00112528 - PubMed: Tamamori 2002, OMIM:var0001 - - - Japan - - - - - NICCD progressive, liver transplant at 10m 2 1 Johan den Dunnen
00112529 - - - F - China - - - - - CTLN2 - 2 1 Chao Liu
00112530 - PubMed: Mitchell 2009 - - - United States - - - - - ? - 1 1 Johan den Dunnen
00112531 11153906-Pat PubMed: Yasuda 2000 2 patients M - Japan - - - - - CTLN2 - 2 2 Johan den Dunnen
00112532 - PubMed: Kobayashi 1999, OMIM:var0002 - - - - - - - - - CTLN2 - 2 1 Johan den Dunnen
00112533 - PubMed: Tamamori 2002, OMIM:var0002 - - - Japan - - - - - NICCD - 2 1 Johan den Dunnen
00112534 - PubMed: Tomamosa 2001, OMIM:var0002 - - - Japan - - - - - NICCD - 2 2 Johan den Dunnen
00112535 - PubMed: Mitchell 2009 - - - United States - - - - - ? - 1 40 Johan den Dunnen
00112536 - PubMed: Kobayashi 1999, OMIM:var0003 - - - - - - - - - CTLN2 - 2 1 Johan den Dunnen
00112537 - PubMed: Mitchell 2009 - - - United States - - - - - ? - 1 1 Johan den Dunnen
00112538 - PubMed: Fiermonte 2008, OMIM:var0007 - - no Pakistan - - - - - CTLN2 episodic confusion, elevated plasma ammonia/arginine levels; fatal hyperammonemic encephalopathy 2 1 Johan den Dunnen
00112539 - PubMed: Fiermonte 2008, OMIM:var0007 - - no Pakistan - - - - - ? asymptomatic 2 2 Johan den Dunnen
00132621 patient PubMed: Takahashi 2006 - M - Japan - - - - - CTLN2 see paper 2 1 Johan den Dunnen
00132622 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Canada French-Canadian - - - - CTLN2 - 1 1 Johan den Dunnen
00132623 Pat758 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - NICCD - 2 1 Johan den Dunnen
00132625 ? PubMed: Woo 2014, Journal: Woo 2014 - - - China - - - - - CTLN2 - 1 1 Johan den Dunnen
00132626 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - 1 11 Johan den Dunnen
00132627 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - 1 11 Johan den Dunnen
00132628 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Korea - - - - - CTLN2 - 1 1 Johan den Dunnen
00132629 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Taiwan - - - - - CTLN2 - 1 1 Johan den Dunnen
00132630 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Canada French-Canadian - - - - CTLN2 - 1 1 Johan den Dunnen
00132631 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - 1 1 Johan den Dunnen
00132632 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - 1 49 Johan den Dunnen
00132633 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - 1 34 Johan den Dunnen
00132634 Pat919 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - 2 1 Johan den Dunnen
00132635 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - 1 3 Johan den Dunnen
00132636 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - 1 1 Johan den Dunnen
00132637 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Korea - - - - - CTLN2 - 1 2 Johan den Dunnen
00132638 ? PubMed: Woo 2014, Journal: Woo 2014 - - - Japan - - - - - CTLN2 - 1 1 Johan den Dunnen
00132639 Pat702 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - 2 1 Johan den Dunnen
00132640 PatP474 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - 2 1 Johan den Dunnen
00132642 Pat557 PubMed: Tabata 2008, Journal: Tabata 2008 - F no Japan - - - - partial liver transplantation from mother CTLN2 diagnosed as CTLN2 by clinical and biochemical studies 3 1 Johan den Dunnen
00132643 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - 1 2 Johan den Dunnen
00132645 con PubMed: Tabata 2008, Journal: Tabata 2008 unaffected heterozygous carrier - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00132646 Pat857 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - 2 1 Johan den Dunnen
00132647 Pat709 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Israel Jewish-Ashkenazi - - - - NICCD - 2 1 Johan den Dunnen
00132648 Pat730 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - NICCD - 2 1 Johan den Dunnen
00132649 Pat1037 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Czech Republic - - - - - NICCD - 2 1 Johan den Dunnen
00132650 Pat549 PubMed: Tabata 2008, Journal: Tabata 2008 - - no Japan - - - - - CTLN2 - 2 1 Johan den Dunnen
00132651 Pat456 PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan - - - - - CTLN2 - 2 1 Johan den Dunnen
00132652 Pat1221 PubMed: Tabata 2008, Journal: Tabata 2008 - - - United Kingdom (Great Britain) Pakistan - - - - NICCD - 1 1 Johan den Dunnen
00132740 16737877-Pat1 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased Citr, Met, Orn 2 1 Johan den Dunnen
00132741 16737877-Pat2 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased level Met, Tyr, Pro 1 1 Johan den Dunnen
00132742 16737877-Pat3 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD normal amino acid levels 1 1 Johan den Dunnen
00132743 16737877-Pat11 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased level Citr, Met, Thr, Tyr, Phe, Lys, Arg 1 1 Johan den Dunnen
00132744 16737877-Pat4 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased level Met, Tyr 1 1 Johan den Dunnen
00132745 16737877-Pat5 PubMed: Yeh 2006 - - - Taiwan - - - - - NICCD increased level Citr 1 1 Johan den Dunnen
00132746 17982687-Pat1 PubMed: Ko 2007 - M - Korea - - - - - NICCD hyperammonemia, hypercitrullinemia, galactosemia 2 1 Johan den Dunnen
00132747 17982687-Pat2 PubMed: Ko 2007 - F - Korea - - - - - NICCD Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia 2 1 Johan den Dunnen
00132748 17982687-Pat3 PubMed: Ko 2007 - M - Korea - - - - - NICCD Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia 2 1 Johan den Dunnen
00132749 17982687-Pat4 PubMed: Ko 2007 - F - Korea - - - - - NICCD Hyperammonemia, hypercitrullinemia 2 1 Johan den Dunnen
00132750 17982687-Pat5 PubMed: Ko 2007 - M - Korea - - - - - CTLN2 hyperammonemia, hypercitrullinemia 2 1 Johan den Dunnen
00132751 17982687-Pat6 PubMed: Ko 2007 - M - Korea - - - - - CTLN2 hyperammonemia, hypercitrullinemia 2 1 Johan den Dunnen
00132753 Pat Journal: Hutchin 2006 P-4-23 - M no United Kingdom (Great Britain) - - - - - NICCD see paper; ... 2 1 Johan den Dunnen
00132754 Pat Journal: Sheng 2006 P-18-24 - M - Taiwan - - - - - NICCD see paper; ... 2 1 Johan den Dunnen
00132755 Pat1 Journal: Luder 2006 O-17-2 - M - Israel moslem - - - - NICCD severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 4y-healthy with no treatment 1 1 Johan den Dunnen
00132756 Pat2 Journal: Luder 2006 O-17-2 - - no Israel mixed Moslem/Circassian - - - - NICCD severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 2y-healthy with no treatment 1 1 Johan den Dunnen
00132757 16311094-Pat PubMed: Takaya 2005 - M - Japan - - - - - NICCD see paper; ... 2 1 Johan den Dunnen
00132758 16311094-Pat2 PubMed: Takaya 2005 - F - Japan - - - - - NICCD see paper; ... 1 1 Johan den Dunnen
00132759 12409267-Pat PubMed: Ben-Shalom 2002 - M yes Israel Moslem - - - - NICCD see paper; ..., prolonged icterus, hepatocellular dysfunction, increased citrulline and dibasic amino acids in plasma and urine 1 1 Johan den Dunnen
00132760 16059747-Pat1 PubMed: Lu 2005 - - - Japan - - - - - CTLN2 - 1 1 Johan den Dunnen
00132761 16059747-Pat PubMed: Lu 2005 - - no Japan - - - - - CTLN2 - 1 1 Johan den Dunnen
00132762 15542392-Pat8 PubMed: Tazawa 2004 - F no Japan - - - - - NICCD see paper; ... 2 1 Johan den Dunnen
00132763 11793471-Pat2 PubMed: Yamaguchi 2002 - - - Japan - - - - - NICCD - 2 1 Johan den Dunnen
00132764 11153906-Pat PubMed: Yasuda 2000 - F - Japan - - - - - CTLN2 - 2 1 Johan den Dunnen
00132766 11153906-Pat PubMed: Yasuda 2000 - M - Japan - - - - - CTLN2 - 2 1 Johan den Dunnen
00294520 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00307650 NCU14 PubMed: Togawa 2016 - M - Japan - - - - - ? see paper; ... 2 1 Johan den Dunnen
00307651 NCU15 PubMed: Togawa 2016 - M - Japan - - - - - ? see paper; ... 2 1 Johan den Dunnen
00307652 NCU16 PubMed: Togawa 2016 - M - Japan - - - - - ? see paper; ... 2 1 Johan den Dunnen
00307653 NCU17 PubMed: Togawa 2016 - F - Japan - - - - - ? see paper; ... 2 1 Johan den Dunnen
00307661 NCU28 PubMed: Togawa 2016 - F - Japan - - - - - ? see paper; ... 2 1 Johan den Dunnen
00308715 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00431010 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 1 247 Johan den Dunnen
00431011 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 1 2 Johan den Dunnen
00431012 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 2 4 Johan den Dunnen
00431013 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 2 8 Johan den Dunnen
00431014 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 2 17 Johan den Dunnen
00431015 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 2 4 Johan den Dunnen
00431016 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 2 1 Johan den Dunnen
00431017 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 2 3 Johan den Dunnen
00431018 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 2 3 Johan den Dunnen
00431019 - PubMed: Nguyen 2023 analysis 292 unrelated CD patients - no Viet Nam - - - - - ? - 2 1 Johan den Dunnen
00431020 WBCT170102 PubMed: Nguyen 2023 analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Viet Nam - - - - - ? see paper 3 1 Johan den Dunnen
00431021 WBCT210304 PubMed: Nguyen 2023 analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Viet Nam - - - - - ? see paper 2 1 Johan den Dunnen
00431024 patient PubMed: Ben-Shalom 2002 - M yes Israel Moslem - - - - ? see paper 1 1 Johan den Dunnen
00431025 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - CTLN2 - 1 2 Johan den Dunnen
00431026 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - 1 15 Johan den Dunnen
00431027 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - CTLN2 - 1 1 Johan den Dunnen
00431028 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - China Asia-E - - - - NICCD - 1 23 Johan den Dunnen
00431029 patients PubMed: Tabata 2008, Journal: Tabata 2008 - - - Japan Asia-E - - - - CTLN2 - 1 44 Johan den Dunnen
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