Publications:

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: R32G

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: GJB1: 94A>G; R32G

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth.

Genetic Testing And Molecular Biomarkers

Keckarevic Markovic, Milica P MP; Dackovic, Jelena J; Mladenovic, Jelena J; Milic-Rasic, Vedrana V; Kecmanovic, Miljana M; Keckarevic, Dusan D; Romac, Stanka S

Publication Date: 2013-01

Variant appearance in text: GJB1: 94A>G

PubMed Link: 23163601

Variant Present in the following documents:

• Main text

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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

European Journal Of Human Genetics : Ejhg

Miltenberger-Miltenyi, Gabriel G; Schwarzbraun, Thomas T; Löscher, Wolfgang N WN; Wanschitz, Julia J; Windpassinger, Christian C; Duba, Hans-Christoph HC; Seidl, Rainer R; Albrecht, Gerhard G; Weirich-Schwaiger, Helga H; Zoller, Heinz H; Utermann, Gerd G; Auer-Grumbach, Michaela M; Janecke, Andreas R AR

Publication Date: 2009-09

Variant appearance in text: GJB1: 94A>G

PubMed Link: 19259128

Variant Present in the following documents:

• Main text

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