Publications:

A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: TTN: V237I

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

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A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T

Publication Date: 2022-02-08

Variant appearance in text: TTN: 709G>A

PubMed Link: 35121658

Variant Present in the following documents:

• pnas.2105228119.sapp.pdf

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A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T

Publication Date: 2022-02-08

Variant appearance in text: TTN: 709G>A

PubMed Link: 35121658

Variant Present in the following documents:

• pnas.2105228119.sapp.pdf

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SLC20A1 Is Involved in Urinary Tract and Urorectal Development.

Frontiers In Cell And Developmental Biology

Rieke, Johanna Magdalena JM; Zhang, Rong R; Braun, Doreen D; Yilmaz, Öznur Ö; Japp, Anna S AS; Lopes, Filipa M FM; Pleschka, Michael M; Hilger, Alina C AC; Schneider, Sophia S; Newman, William G WG; Beaman, Glenda M GM; Nordenskjöld, Agneta A; Ebert, Anne-Karoline AK; Promm, Martin M; Rösch, Wolfgang H WH; Stein, Raimund R; Hirsch, Karin K; Schäfer, Frank-Mattias FM; Schmiedeke, Eberhard E; Boemers, Thomas M TM; Lacher, Martin M; Kluth, Dietrich D; Gosemann, Jan-Hendrik JH; Anderberg, Magnus M; Barker, Gillian G; Holmdahl, Gundela G; Läckgren, Göran G; Keene, David D; Cervellione, Raimondo M RM; Giorgio, Elisa E; Di Grazia, Massimo M; Feitz, Wouter F J WFJ; Marcelis, Carlo L M CLM; Van Rooij, Iris A L M IALM; Bökenkamp, Arend A; Beckers, Goedele M A GMA; Keegan, Catherine E CE; Sharma, Amit A; Dakal, Tikam Chand TC; Wittler, Lars L; Grote, Phillip P; Zwink, Nadine N; Jenetzky, Ekkehart E; Brusco, Alfredo A; Thiele, Holger H; Ludwig, Michael M; Schweizer, Ulrich U; Woolf, Adrian S AS; Odermatt, Benjamin B; Reutter, Heiko H

Publication Date: 2020

Variant appearance in text: TMD: 709G>A

PubMed Link: 32850778

Variant Present in the following documents:

• Main text
• fcell-08-00567.pdf

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Genomic characterisation of Eμ-Myc mouse lymphomas identifies Bcor as a Myc co-operative tumour-suppressor gene.

Nature Communications

Lefebure, Marcus M; Tothill, Richard W RW; Kruse, Elizabeth E; Hawkins, Edwin D ED; Shortt, Jake J; Matthews, Geoffrey M GM; Gregory, Gareth P GP; Martin, Benjamin P BP; Kelly, Madison J MJ; Todorovski, Izabela I; Doyle, Maria A MA; Lupat, Richard R; Li, Jason J; Schroeder, Jan J; Wall, Meaghan M; Craig, Stuart S; Poortinga, Gretchen G; Cameron, Don D; Bywater, Megan M; Kats, Lev L; Gearhart, Micah D MD; Bardwell, Vivian J VJ; Dickins, Ross A RA; Hannan, Ross D RD; Papenfuss, Anthony T AT; Johnstone, Ricky W RW

Publication Date: 2017-03-06

Variant appearance in text: TTN: 709G>A; Val237Met

PubMed Link: 28262675

Variant Present in the following documents:

• ncomms14581-s3.xlsx, sheet 1

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