All individuals with variants in gene AARS

29 entries on 1 page. Showing entries 1 - 29.
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00034595 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034596 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034597 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034598 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034599 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034600 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034601 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034602 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034603 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00050079 ? - - - - Spain - - 0 - - CMT-2 - 1 1 Carmen Espinós
00050216 - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 1 1 Johan den Dunnen
00117852 - - - - - - - - 0 - - CMT Dominant, axonal, peripheral neuropathy 1 1 Heather McLaughlin
00117853 - - - - - - - - 0 - - CMT Dominant, axonal, peripheral neuropathy 1 1 Heather McLaughlin
00117854 - - - - - - - - 0 - - CMT Dominant, axonal Charcot-Marie-Tooth disease 1 1 Heather McLaughlin
00208547 - - - M - Germany - - 0 - - - HP:0001761 (Pes cavus) 1 1 Andreas Laner
00218991 28902413-Pat1 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT2N, HMN; no family history 1 1 Johan den Dunnen
00263911 ? - - - - Spain - - 0 - - CMT-2 - 1 1 Carmen Espinós
00269336 - - - F - - - - 0 - - ? Pes cavus (HP:0001761); Distal amyotrophy (HP:0003693) 1 1 Andreas Laner
00281786 Pat6 PubMed: Sevy 2016, PubMed: Cerino 2020 - F - France - - 0 - - MPD - 1 1 Mathieu Cerino
00291535 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
00291536 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 20 Mohammed Faruq
00299982 Pat-AARS-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300032 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00300033 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - HSN - 1 1 Johan den Dunnen
00300132 Pat-AARS-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00300142 Pat-AARS-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00300152 Pat-AARS-d PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00300155 Pat-AARS-e PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00304532 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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