All individuals with variants in gene KCNJ10

29 entries on 1 page. Showing entries 1 - 29.
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00080933 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - SESAME syndrome SESAME syndrome (OMIM:612780) 1 1 Daniel Trujillano
00281944 - PubMed: Proverbio 2013 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281945 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Yang 2009 - - - - - - 0 - - HL - 1 1 Global Variome, with Curator vacancy
00281946 - PubMed: Freudenthal 2011, PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010, PubMed: Cross 2013 - - - - - - 0 - - SESAME syndrome - 1 1 Global Variome, with Curator vacancy
00281947 - PubMed: Freudenthal 2011 - - - - - - 0 - - deafness epilepsy; ataxia; tubulopathy 1 1 Global Variome, with Curator vacancy
00281948 - PubMed: Kara 2013 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281949 - PubMed: Reichold 2010, PubMed: Scholl 2009, PubMed: Cross 2013 - - - - - - 0 - - SESAME syndrome - 1 1 Global Variome, with Curator vacancy
00281950 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Yang 2009 - - - - - - 0 - - HL - 1 1 Global Variome, with Curator vacancy
00281951 - PubMed: Reichold 2010 - - - - - - 0 - - deafness epilepsy; ataxia; tubulopathy 1 1 Global Variome, with Curator vacancy
00281952 - PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010, PubMed: Tanemoto 2014 - - - - - - 0 - - SESAME syndrome - 1 1 Global Variome, with Curator vacancy
00281953 - PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010 - - - - - - 0 - - SESAME syndrome - 1 1 Global Variome, with Curator vacancy
00281954 - PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010 - - - - - - 0 - - SESAME syndrome - 1 1 Global Variome, with Curator vacancy
00281955 - PubMed: Lemke 2012 - - - - - - 0 - - SESAME syndrome - 1 1 Global Variome, with Curator vacancy
00281956 - PubMed: Parrock 2013 - - - - - - 0 - - deafness epilepsy; ataxia; tubulopathy 1 1 Global Variome, with Curator vacancy
00281957 - PubMed: Sicca 2011 - - - - - - 0 - - autism - 1 1 Global Variome, with Curator vacancy
00281958 - PubMed: Reichold 2010, PubMed: Bockenhauer 2009, PubMed: Sala-Rabanal 2010 - - - - - - 0 - - deafness epilepsy; ataxia; tubulopathy 1 1 Global Variome, with Curator vacancy
00281959 - PubMed: Freudenthal 2011, PubMed: Cross 2013 - - - - - - 0 - - deafness epilepsy; ataxia; tubulopathy 1 1 Global Variome, with Curator vacancy
00281960 - PubMed: Parrock 2013 - - - - - - 0 - - deafness epilepsy; ataxia; tubulopathy 1 1 Global Variome, with Curator vacancy
00281961 - - - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281962 - PubMed: Lemke 2012 - - - - - - 0 - - SESAME syndrome - 1 1 Global Variome, with Curator vacancy
00281963 - PubMed: Reichold 2010, PubMed: Bockenhauer 2009, PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010, PubMed: Cross 2013 - - - - - - 0 - - deafness epilepsy; ataxia; tubulopathy 1 1 Global Variome, with Curator vacancy
00281964 - PubMed: Freudenthal 2011 - - - - - - 0 - - deafness epilepsy; ataxia; tubulopathy 1 1 Global Variome, with Curator vacancy
00281965 - PubMed: Scholl 2012 - - - - - - 0 - - SESAME syndrome - 1 1 Global Variome, with Curator vacancy
00281966 - PubMed: Richards 2015 - - - - - - 0 - - SESAME syndrome sesame syndrome 1 1 Global Variome, with Curator vacancy
00281967 - - - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00289557 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00289558 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 74 Mohammed Faruq
00374351 S-898 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Seizures, global developmental delay, sparse scalp hair, no social smile and eye contact. Electroencephalogram revealed hypsarrhythmia, suggesting epileptic encephalopathy 1 1 Johan den Dunnen
00374610 S-345 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
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