ZNF668 c.606C>T ;(p.G202=)

Variant ID: 16-31075175-G-A

NM_024706.4(ZNF668):c.606C>T;(p.G202=)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Relationship between the Reduced Expression of Zinc Finger Protein 668 in Bladder Cancer and Its Invasiveness.

International Journal Of Molecular Sciences
Okuno, Yumiko Y; Hattori-Kato, Mami M; Tanaka, Hiroki H; Tonooka, Akiko A; Takeuchi, Takumi T
Publication Date: 2023-05-12

Variant appearance in text: rs2303223
PubMed Link: 37240013
Variant Present in the following documents:
  • Main text
  • ijms-24-08668.pdf
View BVdb publication page



Prioritising positively selected variants in whole-genome sequencing data using FineMAV.

Bmc Bioinformatics
Wahyudi, Fadilla F; Aghakhanian, Farhang F; Rahman, Sadequr S; Teo, Yik-Ying YY; Szpak, Michał M; Dhaliwal, Jasbir J; Ayub, Qasim Q
Publication Date: 2021-12-18

Variant appearance in text: rs2303223
PubMed Link: 34922440
Variant Present in the following documents:
  • Main text
  • 12859_2021_Article_4506.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ZNF668: 606C>T; rs2303223
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: ZNF668: Gly202Gly; rs2303223
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: ZNF668: 606C>T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: N/A
PubMed Link: 32529721
Variant Present in the following documents:
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2303223
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: ZNF668: 606C>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs2303223
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ZNF668: 606C>T; rs2303223
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: N/A
PubMed Link: 29221171
Variant Present in the following documents:
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2303223
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: N/A
PubMed Link: 28535796
Variant Present in the following documents:
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: ZNF668: G202G
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: N/A
PubMed Link: 26549847
Variant Present in the following documents:
View BVdb publication page



Genome-wide association study of warfarin maintenance dose in a Brazilian sample.

Pharmacogenomics
Parra, Esteban J EJ; Botton, Mariana R MR; Perini, Jamila A JA; Krithika, S S; Bourgeois, Stephane S; Johnson, Todd A TA; Tsunoda, Tatsuhiko T; Pirmohamed, Munir M; Wadelius, Mia M; Limdi, Nita A NA; Cavallari, Larisa H LH; Burmester, James K JK; Rettie, Allan E AE; Klein, Teri E TE; Johnson, Julie A JA; Hutz, Mara H MH; Suarez-Kurtz, Guilherme G
Publication Date: 2015

Variant appearance in text: rs2303223
PubMed Link: 26265036
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: N/A
PubMed Link: 25944692
Variant Present in the following documents:
View BVdb publication page



Genetic studies of body mass index yield new insights for obesity biology.

Nature
Locke, Adam E AE; Kahali, Bratati B; Berndt, Sonja I SI; Justice, Anne E AE; Pers, Tune H TH; Day, Felix R FR; Powell, Corey C; Vedantam, Sailaja S; Buchkovich, Martin L ML; Yang, Jian J; Croteau-Chonka, Damien C DC; Esko, Tonu T; Fall, Tove T; Ferreira, Teresa T; Gustafsson, Stefan S; Kutalik, Zoltán Z; Luan, Jian'an J; Mägi, Reedik R; Randall, Joshua C JC; Winkler, Thomas W TW; Wood, Andrew R AR; Workalemahu, Tsegaselassie T; Faul, Jessica D JD; Smith, Jennifer A JA; Zhao, Jing Hua JH; Zhao, Wei W; Chen, Jin J; Fehrmann, Rudolf R; Hedman, Åsa K ÅK; Karjalainen, Juha J; Schmidt, Ellen M EM; Absher, Devin D; Amin, Najaf N; Anderson, Denise D; Beekman, Marian M; Bolton, Jennifer L JL; Bragg-Gresham, Jennifer L JL; Buyske, Steven S; Demirkan, Ayse A; Deng, Guohong G; Ehret, Georg B GB; Feenstra, Bjarke B; Feitosa, Mary F MF; Fischer, Krista K; Goel, Anuj A; Gong, Jian J; Jackson, Anne U AU; Kanoni, Stavroula S; Kleber, Marcus E ME; Kristiansson, Kati K; Lim, Unhee U; Lotay, Vaneet V; Mangino, Massimo M; Leach, Irene Mateo IM; Medina-Gomez, Carolina C; Medland, Sarah E SE; Nalls, Michael A MA; Palmer, Cameron D CD; Pasko, Dorota D; Pechlivanis, Sonali S; Peters, Marjolein J MJ; Prokopenko, Inga I; Shungin, Dmitry D; Stančáková, Alena A; Strawbridge, Rona J RJ; Sung, Yun Ju YJ; Tanaka, Toshiko T; Teumer, Alexander A; Trompet, Stella S; van der Laan, Sander W SW; van Setten, Jessica J; Van Vliet-Ostaptchouk, Jana V JV; Wang, Zhaoming Z; Yengo, Loïc L; Zhang, Weihua W; Isaacs, Aaron A; Albrecht, Eva E; Ärnlöv, Johan J; Arscott, Gillian M GM; Attwood, Antony P AP; Bandinelli, Stefania S; Barrett, Amy A; Bas, Isabelita N IN; Bellis, Claire C; Bennett, Amanda J AJ; Berne, Christian C; Blagieva, Roza R; Blüher, Matthias M; Böhringer, Stefan S; Bonnycastle, Lori L LL; Böttcher, Yvonne Y; Boyd, Heather A HA; Bruinenberg, Marcel M; Caspersen, Ida H IH; Chen, Yii-Der Ida YI; Clarke, Robert R; Daw, E Warwick EW; de Craen, Anton J M AJM; Delgado, Graciela G; Dimitriou, Maria M; Doney, Alex S F ASF; Eklund, Niina N; Estrada, Karol K; Eury, Elodie E; Folkersen, Lasse L; Fraser, Ross M RM; Garcia, Melissa E ME; Geller, Frank F; Giedraitis, Vilmantas V; Gigante, Bruna B; Go, Alan S AS; Golay, Alain A; Goodall, Alison H AH; Gordon, Scott D SD; Gorski, Mathias M; Grabe, Hans-Jörgen HJ; Grallert, Harald H; Grammer, Tanja B TB; Gräßler, Jürgen J; Grönberg, Henrik H; Groves, Christopher J CJ; Gusto, Gaëlle G; Haessler, Jeffrey J; Hall, Per P; Haller, Toomas T; Hallmans, Goran G; Hartman, Catharina A CA; Hassinen, Maija M; Hayward, Caroline C; Heard-Costa, Nancy L NL; Helmer, Quinta Q; Hengstenberg, Christian C; Holmen, Oddgeir O; Hottenga, Jouke-Jan JJ; James, Alan L AL; Jeff, Janina M JM; Johansson, Åsa Å; Jolley, Jennifer J; Juliusdottir, Thorhildur T; Kinnunen, Leena L; Koenig, Wolfgang W; Koskenvuo, Markku M; Kratzer, Wolfgang W; Laitinen, Jaana J; Lamina, Claudia C; Leander, Karin K; Lee, Nanette R NR; Lichtner, Peter P; Lind, Lars L; Lindström, Jaana J; Lo, Ken Sin KS; Lobbens, Stéphane S; Lorbeer, Roberto R; Lu, Yingchang Y; Mach, François F; Magnusson, Patrik K E PKE; Mahajan, Anubha A; McArdle, Wendy L WL; McLachlan, Stela S; Menni, Cristina C; Merger, Sigrun S; Mihailov, Evelin E; Milani, Lili L; Moayyeri, Alireza A; Monda, Keri L KL; Morken, Mario A MA; Mulas, Antonella A; Müller, Gabriele G; Müller-Nurasyid, Martina M; Musk, Arthur W AW; Nagaraja, Ramaiah R; Nöthen, Markus M MM; Nolte, Ilja M IM; Pilz, Stefan S; Rayner, Nigel W NW; Renstrom, Frida F; Rettig, Rainer R; Ried, Janina S JS; Ripke, Stephan S; Robertson, Neil R NR; Rose, Lynda M LM; Sanna, Serena S; Scharnagl, Hubert H; Scholtens, Salome S; Schumacher, Fredrick R FR; Scott, William R WR; Seufferlein, Thomas T; Shi, Jianxin J; Smith, Albert Vernon AV; Smolonska, Joanna J; Stanton, Alice V AV; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen K; Stringham, Heather M HM; Sundström, Johan J; Swertz, Morris A MA; Swift, Amy J AJ; Syvänen, Ann-Christine AC; Tan, Sian-Tsung ST; Tayo, Bamidele O BO; Thorand, Barbara B; Thorleifsson, Gudmar G; Tyrer, Jonathan P JP; Uh, Hae-Won HW; Vandenput, Liesbeth L; Verhulst, Frank C FC; Vermeulen, Sita H SH; Verweij, Niek N; Vonk, Judith M JM; Waite, Lindsay L LL; Warren, Helen R HR; Waterworth, Dawn D; Weedon, Michael N MN; Wilkens, Lynne R LR; Willenborg, Christina C; Wilsgaard, Tom T; Wojczynski, Mary K MK; Wong, Andrew A; Wright, Alan F AF; Zhang, Qunyuan Q; , ; Brennan, Eoin P EP; Choi, Murim M; Dastani, Zari Z; Drong, Alexander W AW; Eriksson, Per P; Franco-Cereceda, Anders A; Gådin, Jesper R JR; Gharavi, Ali G AG; Goddard, Michael E ME; Handsaker, Robert E RE; Huang, Jinyan J; Karpe, Fredrik F; Kathiresan, Sekar S; Keildson, Sarah S; Kiryluk, Krzysztof K; Kubo, Michiaki M; Lee, Jong-Young JY; Liang, Liming L; Lifton, Richard P RP; Ma, Baoshan B; McCarroll, Steven A SA; McKnight, Amy J AJ; Min, Josine L JL; Moffatt, Miriam F MF; Montgomery, Grant W GW; Murabito, Joanne M JM; Nicholson, George G; Nyholt, Dale R DR; Okada, Yukinori Y; Perry, John R B JRB; Dorajoo, Rajkumar R; Reinmaa, Eva E; Salem, Rany M RM; Sandholm, Niina N; Scott, Robert A RA; Stolk, Lisette L; Takahashi, Atsushi A; Tanaka, Toshihiro T; van 't Hooft, Ferdinand M FM; Vinkhuyzen, Anna A E AAE; Westra, Harm-Jan HJ; Zheng, Wei W; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Heath, Andrew C AC; Arveiler, Dominique D; Bakker, Stephan J L SJL; Beilby, John J; Bergman, Richard N RN; Blangero, John J; Bovet, Pascal P; Campbell, Harry H; Caulfield, Mark J MJ; Cesana, Giancarlo G; Chakravarti, Aravinda A; Chasman, Daniel I DI; Chines, Peter S PS; Collins, Francis S FS; Crawford, Dana C DC; Cupples, L Adrienne LA; Cusi, Daniele D; Danesh, John J; de Faire, Ulf U; den Ruijter, Hester M HM; Dominiczak, Anna F AF; Erbel, Raimund R; Erdmann, Jeanette J; Eriksson, Johan G JG; Farrall, Martin M; Felix, Stephan B SB; Ferrannini, Ele E; Ferrières, Jean J; Ford, Ian I; Forouhi, Nita G NG; Forrester, Terrence T; Franco, Oscar H OH; Gansevoort, Ron T RT; Gejman, Pablo V PV; Gieger, Christian C; Gottesman, Omri O; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hall, Alistair S AS; Harris, Tamara B TB; Hattersley, Andrew T AT; Hicks, Andrew A AA; Hindorff, Lucia A LA; Hingorani, Aroon D AD; Hofman, Albert A; Homuth, Georg G; Hovingh, G Kees GK; Humphries, Steve E SE; Hunt, Steven C SC; Hyppönen, Elina E; Illig, Thomas T; Jacobs, Kevin B KB; Jarvelin, Marjo-Riitta MR; Jöckel, Karl-Heinz KH; Johansen, Berit B; Jousilahti, Pekka P; Jukema, J Wouter JW; Jula, Antti M AM; Kaprio, Jaakko J; Kastelein, John J P JJP; Keinanen-Kiukaanniemi, Sirkka M SM; Kiemeney, Lambertus A LA; Knekt, Paul P; Kooner, Jaspal S JS; Kooperberg, Charles C; Kovacs, Peter P; Kraja, Aldi T AT; Kumari, Meena M; Kuusisto, Johanna J; Lakka, Timo A TA; Langenberg, Claudia C; Marchand, Loic Le LL; Lehtimäki, Terho T; Lyssenko, Valeriya V; Männistö, Satu S; Marette, André A; Matise, Tara C TC; McKenzie, Colin A CA; McKnight, Barbara B; Moll, Frans L FL; Morris, Andrew D AD; Morris, Andrew P AP; Murray, Jeffrey C JC; Nelis, Mari M; Ohlsson, Claes C; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Madden, Pamela A F PAF; Pasterkamp, Gerard G; Peden, John F JF; Peters, Annette A; Postma, Dirkje S DS; Pramstaller, Peter P PP; Price, Jackie F JF; Qi, Lu L; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Ridker, Paul M PM; Rioux, John D JD; Ritchie, Marylyn D MD; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Saramies, Jouko J; Sarzynski, Mark A MA; Schunkert, Heribert H; Schwarz, Peter E H PEH; Sever, Peter P; Shuldiner, Alan R AR; Sinisalo, Juha J; Stolk, Ronald P RP; Strauch, Konstantin K; Tönjes, Anke A; Trégouët, David-Alexandre DA; Tremblay, Angelo A; Tremoli, Elena E; Virtamo, Jarmo J; Vohl, Marie-Claude MC; Völker, Uwe U; Waeber, Gérard G; Willemsen, Gonneke G; Witteman, Jacqueline C JC; Zillikens, M Carola MC; Adair, Linda S LS; Amouyel, Philippe P; Asselbergs, Folkert W FW; Assimes, Themistocles L TL; Bochud, Murielle M; Boehm, Bernhard O BO; Boerwinkle, Eric E; Bornstein, Stefan R SR; Bottinger, Erwin P EP; Bouchard, Claude C; Cauchi, Stéphane S; Chambers, John C JC; Chanock, Stephen J SJ; Cooper, Richard S RS; de Bakker, Paul I W PIW; Dedoussis, George G; Ferrucci, Luigi L; Franks, Paul W PW; Froguel, Philippe P; Groop, Leif C LC; Haiman, Christopher A CA; Hamsten, Anders A; Hui, Jennie J; Hunter, David J DJ; Hveem, Kristian K; Kaplan, Robert C RC; Kivimaki, Mika M; Kuh, Diana D; Laakso, Markku M; Liu, Yongmei Y; Martin, Nicholas G NG; März, Winfried W; Melbye, Mads M; Metspalu, Andres A; Moebus, Susanne S; Munroe, Patricia B PB; Njølstad, Inger I; Oostra, Ben A BA; Palmer, Colin N A CNA; Pedersen, Nancy L NL; Perola, Markus M; Pérusse, Louis L; Peters, Ulrike U; Power, Chris C; Quertermous, Thomas T; Rauramaa, Rainer R; Rivadeneira, Fernando F; Saaristo, Timo E TE; Saleheen, Danish D; Sattar, Naveed N; Schadt, Eric E EE; Schlessinger, David D; Slagboom, P Eline PE; Snieder, Harold H; Spector, Tim D TD; Thorsteinsdottir, Unnur U; Stumvoll, Michael M; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Walker, Mark M; Wallaschofski, Henri H; Wareham, Nicholas J NJ; Watkins, Hugh H; Weir, David R DR; Wichmann, H-Erich HE; Wilson, James F JF; Zanen, Pieter P; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Heid, Iris M IM; O'Connell, Jeffrey R JR; Strachan, David P DP; Stefansson, Kari K; van Duijn, Cornelia M CM; Abecasis, Gonçalo R GR; Franke, Lude L; Frayling, Timothy M TM; McCarthy, Mark I MI; Visscher, Peter M PM; Scherag, André A; Willer, Cristen J CJ; Boehnke, Michael M; Mohlke, Karen L KL; Lindgren, Cecilia M CM; Beckmann, Jacques S JS; Barroso, Inês I; North, Kari E KE; Ingelsson, Erik E; Hirschhorn, Joel N JN; Loos, Ruth J F RJF; Speliotes, Elizabeth K EK
Publication Date: 2015-02-12

Variant appearance in text: rs2303223
PubMed Link: 25673413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: N/A
PubMed Link: 25589003
Variant Present in the following documents:
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: N/A
PubMed Link: 24219164
Variant Present in the following documents:
View BVdb publication page