All individuals with variants in gene NEFL

50 entries on 1 page. Showing entries 1 - 50.
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AscendingIndividual ID     

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Age at death     

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Data_av     

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Disease     

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Owner     
00036393 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036394 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036395 - - - - - Germany - - 0 - - ? suspected HMSN 1 1 Andreas Laner
00207583 - - - F no France - 69y 0 - - CMT sensori-motor axonal neuropathy and moderate hearing loss 1 1 Justine Lerat
00210525 - - family, 3 affecteds F no Korea, South (Republic) Korean - 0 - - CMT type 2 1 1 Ki Wha Chung
00210526 - - family, 6 affecteds M no Korea, South (Republic) Korean - 0 - - CMT intermediate type 1 1 Ki Wha Chung
00210527 - - family, 2 affecteds F no Korea, South (Republic) Korean - 0 - - CMT type 1 1 1 Ki Wha Chung
00210528 - PubMed: Zuchner 2004 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210529 - PubMed: Benedetti 2010 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210530 - PubMed: Jordanova 2003 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00210531 - PubMed: Jordanova 2003 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00210532 - PubMed: Jordanova 2003 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00210533 - PubMed: Jordanova 2003 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00210534 - PubMed: Jordanova 2003 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00210535 - PubMed: Miltenberger-Miltenyi 2007 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00210536 - PubMed: Yoshihara 2002 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210537 - PubMed: Abe 2009 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210538 - PubMed: Yoshihara 2002 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210539 - PubMed: Yum 2009 - - - - - - 0 - - neuropathy - 1 1 Johan den Dunnen
00210540 - PubMed: Georgiou 2002 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00210541 - PubMed: Shin 2008 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210542 - PubMed: Fabrizi 2007 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00210543 - PubMed: Mersiyanova 2000 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00210544 - PubMed: Choi 2004 - - - - - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00219021 28902413-Pat31 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT1F, CMT2E; no family history 1 1 Johan den Dunnen
00219022 28902413-Pat32 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT1F, CMT2E; no family history 1 1 Johan den Dunnen
00219023 28902413-Pat33 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT1F, CMT2E; no family history 1 1 Johan den Dunnen
00219024 28902413-Pat34 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1F, CMT2E 1 1 Johan den Dunnen
00228245 - - - - - - - - 0 - - CMT-1F - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00263951 ? - - - - Spain - - 0 - - CMT-2 - 1 1 Carmen Espinós
00263952 ? - - - - Spain - - 0 - - CMT-2 - 1 1 Carmen Espinós
00263953 ? - - - - Spain - - 0 - - CMT-2 - 1 1 Carmen Espinós
00263954 ? - - - - Spain - - 0 - - CMT-2 - 1 1 Carmen Espinós
00263955 ? - - - - Spain - - 0 - - CMT-2 - 1 1 Carmen Espinós
00294622 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 51 Mohammed Faruq
00294623 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00300017 Pat-NEFL-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300018 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300019 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - HMN - 1 1 Johan den Dunnen
00300082 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00300083 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00300121 Pat-NEFL-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00324636 Fam4 PubMed: Lin 2011 2-generation family, 3 affected (F, 2M) F - Taiwan Han Chinese - 0 - - CMT see paper; ... 1 3 Johan den Dunnen
00324637 Fam5 PubMed: Lin 2011 - M - Taiwan Han Chinese - 0 - - CMT see paper; ... 1 1 Johan den Dunnen
00324638 Fam6 PubMed: Lin 2011 2-generation family, >3 affected F - Taiwan Han Chinese - 0 - - CMT see paper; ... 1 4 Johan den Dunnen
00324639 Fam7 PubMed: Lin 2011 2-generation family, >3 affected F - Taiwan Han Chinese - 0 - - CMT see paper; ... 1 4 Johan den Dunnen
00324640 Fam8 PubMed: Lin 2011 2-generation family, affected brother/sister M - Taiwan Han Chinese - 0 - - CMT see paper; ... 1 2 Johan den Dunnen
00324641 Fam9 PubMed: Lin 2011 - F - Taiwan Han Chinese - 0 - - CMT see paper; ... 1 1 Johan den Dunnen
00374415 S-567 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Motor developmental delay and hypotonia. A nerve conduction velocity test was suggestive of HMSN. 1 1 Johan den Dunnen
00375207 - - - - - - - - - - - CMT-1F - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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