All individuals with variants in gene KCNQ4

48 entries on 1 page. Showing entries 1 - 48.
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AscendingIndividual ID     

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Age at death     

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Disease     

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Owner     
00059149 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Manou Sommen
00281968 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Kamada 2006 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281969 - PubMed: Smith 1993, PubMed: Coucke 1999, PubMed: Shearer 1993 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281970 - PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00281971 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00281972 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Nie 2008 - - - - - - - - - deafness hearing loss (HL), non-syndromic 1 1 Global Variome, with Curator vacancy
00281973 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00281974 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Naito 2013, PubMed: Wang 2014 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281975 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Su 2007 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00281976 - PubMed: Baek 2011 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281977 - PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00281978 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00281979 - PubMed: Hildebrand 2008, PubMed: Xiong 2015 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281980 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Hildebrand 2008 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281981 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Hildebrand 2008 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281982 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Abdelfatah 2013, PubMed: Watabe 2013 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00281983 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Namba 2012 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281984 - PubMed: Kim 2011, PubMed: Shearer 1993, PubMed: Van Hauwe 2000, PubMed: de Heer 2011, PubMed: Smith 1993, PubMed: Gao 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281985 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Wang 2014 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00281986 - PubMed: Gao 2013, PubMed: Kim 2011, PubMed: Usami 2012, PubMed: Topsakal 2005, PubMed: Van Camp 2002, PubMed: Shearer 1993, PubMed: Coucke 1999, PubMed: Baek 2011, PubMed: Smith 1993, PubMed: Akita 2001, PubMed: Duzkale 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281987 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00281988 - PubMed: Kim 2011, PubMed: Talebizadeh 1999, PubMed: Smith 1993, PubMed: Shearer 1993, PubMed: Gao 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281989 - PubMed: Smith 1993, PubMed: Shearer 1993, PubMed: Coucke 1999, PubMed: Kubisch 1999, PubMed: Gao 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281990 - PubMed: Wang 2014, PubMed: Shearer 1993, PubMed: Kim 2011, PubMed: Coucke 1999, PubMed: Bal 2008, PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Kubisch 1999, PubMed: Gao 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281991 - PubMed: Arnett 2011 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281992 - PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00281993 - PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00281994 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Mencía 2008, PubMed: Gao 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281995 - PubMed: Naito 2013, PubMed: Shearer 1993, PubMed: Smith 1993 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00281996 - PubMed: Smith 1993, PubMed: Coucke 1999, PubMed: Shearer 1993, PubMed: Gao 2013, PubMed: Xiong 2015 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00281997 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Wasano 2015 - - - - - - - - - deafness hearing loss (HL), non-syndromic 1 1 Global Variome, with Curator vacancy
00281998 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00281999 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00282000 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00282001 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00282002 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Su 2007 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00282003 - PubMed: Yuen 2015 - - - - - - - - - autism - 1 1 Global Variome, with Curator vacancy
00282004 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00282005 - PubMed: Duzkale 2013 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00282006 - PubMed: Miyagawa 2013 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00282007 - PubMed: Shearer 1993, PubMed: Smith 1993 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00327102 SB356-697 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - DFNA - 1 1 So Young Kim
00391289 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - DFNB;ARNSHL - 1 1 Johan den Dunnen
00441488 PAR016 PubMed: Boucher 2020 family, 4 affected - - France - - - - - HL - 1 4 Johan den Dunnen
00441489 PAR047 PubMed: Boucher 2020 - - - France - - - - - HL - 1 1 Johan den Dunnen
00465438 - PubMed: Su 2007, PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - HL - 1 3 Johan den Dunnen
00465439 - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - HL - 1 2 Johan den Dunnen
00465440 DE2675 PubMed: Wu 2013, PubMed: Wu 2019 3-generation family, 3 affected (3F) F - Taiwan - - - - - HL - 1 3 Johan den Dunnen
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