GC c.970C>T ;(p.P324S)

Variant ID: 4-72622493-G-A

NM_000583.3(GC):c.970C>T;(p.P324S)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GC: 970C>T
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Astaxanthin and eicosapentaenoic acid production by S4, a new mutant strain of Nannochloropsis gaditana.

Microbial Cell Factories
Cecchin, Michela M; Cazzaniga, Stefano S; Martini, Flavio F; Paltrinieri, Stefania S; Bossi, Simone S; Maffei, Massimo E ME; Ballottari, Matteo M
Publication Date: 2022-06-16

Variant appearance in text: GC: 970C>T; Pro324Ser
PubMed Link: 35710482
Variant Present in the following documents:
  • 12934_2022_1847_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



In vivo evolution of an emerging zoonotic bacterial pathogen in an immunocompromised human host.

Nature Communications
Launay, A A; Wu, C-J CJ; Dulanto Chiang, A A; Youn, J-H JH; Khil, P P PP; Dekker, J P JP
Publication Date: 2021-07-23

Variant appearance in text: GC: P324S
PubMed Link: 34301946
Variant Present in the following documents:
  • 41467_2021_24668_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Reprogramming of bivalent chromatin states in NRAS mutant melanoma suggests PRC2 inhibition as a therapeutic strategy.

Cell Reports
Terranova, Christopher J CJ; Tang, Ming M; Maitituoheti, Mayinuer M; Raman, Ayush T AT; Ghosh, Archit K AK; Schulz, Jonathan J; Amin, Samir B SB; Orouji, Elias E; Tomczak, Katarzyna K; Sarkar, Sharmistha S; Oba, Junna J; Creasy, Caitlin C; Wu, Chang-Jiun CJ; Khan, Samia S; Lazcano, Rossana R; Wani, Khalida K; Singh, Anand A; Barrodia, Praveen P; Zhao, Dongyu D; Chen, Kaifu K; Haydu, Lauren E LE; Wang, Wei-Lien WL; Lazar, Alexander J AJ; Woodman, Scott E SE; Bernatchez, Chantale C; Rai, Kunal K
Publication Date: 2021-07-20

Variant appearance in text: GC: P324S
PubMed Link: 34289358
Variant Present in the following documents:
  • NIHMS1727018-supplement-2.xlsx, sheet 2
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: GC: 970C>T
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The trans-ancestral genomic architecture of glycemic traits.

Nature Genetics
Chen, Ji J; Spracklen, Cassandra N CN; Marenne, Gaëlle G; Varshney, Arushi A; Corbin, Laura J LJ; Luan, Jian'an J; Willems, Sara M SM; Wu, Ying Y; Zhang, Xiaoshuai X; Horikoshi, Momoko M; Boutin, Thibaud S TS; Mägi, Reedik R; Waage, Johannes J; Li-Gao, Ruifang R; Chan, Kei Hang Katie KHK; Yao, Jie J; Anasanti, Mila D MD; Chu, Audrey Y AY; Claringbould, Annique A; Heikkinen, Jani J; Hong, Jaeyoung J; Hottenga, Jouke-Jan JJ; Huo, Shaofeng S; Kaakinen, Marika A MA; Louie, Tin T; März, Winfried W; Moreno-Macias, Hortensia H; Ndungu, Anne A; Nelson, Sarah C SC; Nolte, Ilja M IM; North, Kari E KE; Raulerson, Chelsea K CK; Ray, Debashree D; Rohde, Rebecca R; Rybin, Denis D; Schurmann, Claudia C; Sim, Xueling X; Southam, Lorraine L; Stewart, Isobel D ID; Wang, Carol A CA; Wang, Yujie Y; Wu, Peitao P; Zhang, Weihua W; Ahluwalia, Tarunveer S TS; Appel, Emil V R EVR; Bielak, Lawrence F LF; Brody, Jennifer A JA; Burtt, Noël P NP; Cabrera, Claudia P CP; Cade, Brian E BE; Chai, Jin Fang JF; Chai, Xiaoran X; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Chen, Brian H BH; Chitrala, Kumaraswamy Naidu KN; Chiu, Yen-Feng YF; de Haan, Hugoline G HG; Delgado, Graciela E GE; Demirkan, Ayse A; Duan, Qing Q; Engmann, Jorgen J; Fatumo, Segun A SA; Gayán, Javier J; Giulianini, Franco F; Gong, Jung Ho JH; Gustafsson, Stefan S; Hai, Yang Y; Hartwig, Fernando P FP; He, Jing J; Heianza, Yoriko Y; Huang, Tao T; Huerta-Chagoya, Alicia A; Hwang, Mi Yeong MY; Jensen, Richard A RA; Kawaguchi, Takahisa T; Kentistou, Katherine A KA; Kim, Young Jin YJ; Kleber, Marcus E ME; Kooner, Ishminder K IK; Lai, Shuiqing S; Lange, Leslie A LA; Langefeld, Carl D CD; Lauzon, Marie M; Li, Man M; Ligthart, Symen S; Liu, Jun J; Loh, Marie M; Long, Jirong J; Lyssenko, Valeriya V; Mangino, Massimo M; Marzi, Carola C; Montasser, May E ME; Nag, Abhishek A; Nakatochi, Masahiro M; Noce, Damia D; Noordam, Raymond R; Pistis, Giorgio G; Preuss, Michael M; Raffield, Laura L; Rasmussen-Torvik, Laura J LJ; Rich, Stephen S SS; Robertson, Neil R NR; Rueedi, Rico R; Ryan, Kathleen K; Sanna, Serena S; Saxena, Richa R; Schraut, Katharina E KE; Sennblad, Bengt B; Setoh, Kazuya K; Smith, Albert V AV; Sparsø, Thomas T; Strawbridge, Rona J RJ; Takeuchi, Fumihiko F; Tan, Jingyi J; Trompet, Stella S; van den Akker, Erik E; van der Most, Peter J PJ; Verweij, Niek N; Vogel, Mandy M; Wang, Heming H; Wang, Chaolong C; Wang, Nan N; Warren, Helen R HR; Wen, Wanqing W; Wilsgaard, Tom T; Wong, Andrew A; Wood, Andrew R AR; Xie, Tian T; Zafarmand, Mohammad Hadi MH; Zhao, Jing-Hua JH; Zhao, Wei W; Amin, Najaf N; Arzumanyan, Zorayr Z; Astrup, Arne A; Bakker, Stephan J L SJL; Baldassarre, Damiano D; Beekman, Marian M; Bergman, Richard N RN; Bertoni, Alain A; Blüher, Matthias M; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Bowden, Donald W DW; Cai, Qiuyin Q; Campbell, Archie A; Campbell, Harry H; Chang, Yi Cheng YC; de Geus, Eco J C EJC; Dehghan, Abbas A; Du, Shufa S; Eiriksdottir, Gudny G; Farmaki, Aliki Eleni AE; Frånberg, Mattias M; Fuchsberger, Christian C; Gao, Yutang Y; Gjesing, Anette P AP; Goel, Anuj A; Han, Sohee S; Hartman, Catharina A CA; Herder, Christian C; Hicks, Andrew A AA; Hsieh, Chang-Hsun CH; Hsueh, Willa A WA; Ichihara, Sahoko S; Igase, Michiya M; Ikram, M Arfan MA; Johnson, W Craig WC; Jørgensen, Marit E ME; Joshi, Peter K PK; Kalyani, Rita R RR; Kandeel, Fouad R FR; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kiess, Wieland W; Kolcic, Ivana I; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Läll, Kristi K; Lam, Kelvin K; Lawlor, Deborah A DA; Lee, Nanette R NR; Lemaitre, Rozenn N RN; Li, Honglan H; , ; Lin, Shih-Yi SY; Lindström, Jaana J; Linneberg, Allan A; Liu, Jianjun J; Lorenzo, Carlos C; Matsubara, Tatsuaki T; Matsuda, Fumihiko F; Mingrone, Geltrude G; Mooijaart, Simon S; Moon, Sanghoon S; Nabika, Toru T; Nadkarni, Girish N GN; Nadler, Jerry L JL; Nelis, Mari M; Neville, Matt J MJ; Norris, Jill M JM; Ohyagi, Yasumasa Y; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Qi, Qibin Q; Raven, Dennis D; Reilly, Dermot F DF; Reiner, Alex A; Rivideneira, Fernando F; Roll, Kathryn K; Rudan, Igor I; Sabanayagam, Charumathi C; Sandow, Kevin K; Sattar, Naveed N; Schürmann, Annette A; Shi, Jinxiu J; Stringham, Heather M HM; Taylor, Kent D KD; Teslovich, Tanya M TM; Thuesen, Betina B; Timmers, Paul R H J PRHJ; Tremoli, Elena E; Tsai, Michael Y MY; Uitterlinden, Andre A; van Dam, Rob M RM; van Heemst, Diana D; van Hylckama Vlieg, Astrid A; van Vliet-Ostaptchouk, Jana V JV; Vangipurapu, Jagadish J; Vestergaard, Henrik H; Wang, Tao T; Willems van Dijk, Ko K; Zemunik, Tatijana T; Abecasis, Gonçalo R GR; Adair, Linda S LS; Aguilar-Salinas, Carlos Alberto CA; Alarcón-Riquelme, Marta E ME; An, Ping P; Aviles-Santa, Larissa L; Becker, Diane M DM; Beilin, Lawrence J LJ; Bergmann, Sven S; Bisgaard, Hans H; Black, Corri C; Boehnke, Michael M; Boerwinkle, Eric E; Böhm, Bernhard O BO; Bønnelykke, Klaus K; Boomsma, D I DI; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Canouil, Mickaël M; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Cheng, Ching-Yu CY; Collins, Francis S FS; Correa, Adolfo A; Cucca, Francesco F; de Silva, H Janaka HJ; Dedoussis, George G; Elmståhl, Sölve S; Evans, Michele K MK; Ferrannini, Ele E; Ferrucci, Luigi L; Florez, Jose C JC; Franks, Paul W PW; Frayling, Timothy M TM; Froguel, Philippe P; Gigante, Bruna B; Goodarzi, Mark O MO; Gordon-Larsen, Penny P; Grallert, Harald H; Grarup, Niels N; Grimsgaard, Sameline S; Groop, Leif L; Gudnason, Vilmundur V; Guo, Xiuqing X; Hamsten, Anders A; Hansen, Torben T; Hayward, Caroline C; Heckbert, Susan R SR; Horta, Bernardo L BL; Huang, Wei W; Ingelsson, Erik E; James, Pankow S PS; Jarvelin, Marjo-Ritta MR; Jonas, Jost B JB; Jukema, J Wouter JW; Kaleebu, Pontiano P; Kaplan, Robert R; Kardia, Sharon L R SLR; Kato, Norihiro N; Keinanen-Kiukaanniemi, Sirkka M SM; Kim, Bong-Jo BJ; Kivimaki, Mika M; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Kuh, Diana D; Kumari, Meena M; Kutalik, Zoltan Z; Laakso, Markku M; Lakka, Timo A TA; Launer, Lenore J LJ; Leander, Karin K; Li, Huaixing H; Lin, Xu X; Lind, Lars L; Lindgren, Cecilia C; Liu, Simin S; Loos, Ruth J F RJF; Magnusson, Patrik K E PKE; Mahajan, Anubha A; Metspalu, Andres A; Mook-Kanamori, Dennis O DO; Mori, Trevor A TA; Munroe, Patricia B PB; Njølstad, Inger I; O'Connell, Jeffrey R JR; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pedersen, Oluf O; Pennell, Craig E CE; Porteous, David J DJ; Pramstaller, Peter P PP; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Raffel, Leslie J LJ; Rauramaa, Rainer R; Redline, Susan S; Ridker, Paul M PM; Rosendaal, Frits R FR; Saaristo, Timo E TE; Sandhu, Manjinder M; Saramies, Jouko J; Schneiderman, Neil N; Schwarz, Peter P; Scott, Laura J LJ; Selvin, Elizabeth E; Sever, Peter P; Shu, Xiao-Ou XO; Slagboom, P Eline PE; Small, Kerrin S KS; Smith, Blair H BH; Snieder, Harold H; Sofer, Tamar T; Sørensen, Thorkild I A TIA; Spector, Tim D TD; Stanton, Alice A; Steves, Claire J CJ; Stumvoll, Michael M; Sun, Liang L; Tabara, Yasuharu Y; Tai, E Shyong ES; Timpson, Nicholas J NJ; Tönjes, Anke A; Tuomilehto, Jaakko J; Tusie, Teresa T; Uusitupa, Matti M; van der Harst, Pim P; van Duijn, Cornelia C; Vitart, Veronique V; Vollenweider, Peter P; Vrijkotte, Tanja G M TGM; Wagenknecht, Lynne E LE; Walker, Mark M; Wang, Ya X YX; Wareham, Nick J NJ; Watanabe, Richard M RM; Watkins, Hugh H; Wei, Wen B WB; Wickremasinghe, Ananda R AR; Willemsen, Gonneke G; Wilson, James F JF; Wong, Tien-Yin TY; Wu, Jer-Yuarn JY; Xiang, Anny H AH; Yanek, Lisa R LR; Yengo, Loïc L; Yokota, Mitsuhiro M; Zeggini, Eleftheria E; Zheng, Wei W; Zonderman, Alan B AB; Rotter, Jerome I JI; Gloyn, Anna L AL; McCarthy, Mark I MI; Dupuis, Josée J; Meigs, James B JB; Scott, Robert A RA; Prokopenko, Inga I; Leong, Aaron A; Liu, Ching-Ti CT; Parker, Stephen C J SCJ; Mohlke, Karen L KL; Langenberg, Claudia C; Wheeler, Eleanor E; Morris, Andrew P AP; Barroso, Inês I; ,
Publication Date: 2021-06

Variant appearance in text: GC: Pro324Ser
PubMed Link: 34059833
Variant Present in the following documents:
  • EMS120610.pdf
View BVdb publication page



The trans-ancestral genomic architecture of glycemic traits.

Nature Genetics
Chen, Ji J; Spracklen, Cassandra N CN; Marenne, Gaëlle G; Varshney, Arushi A; Corbin, Laura J LJ; Luan, Jian'an J; Willems, Sara M SM; Wu, Ying Y; Zhang, Xiaoshuai X; Horikoshi, Momoko M; Boutin, Thibaud S TS; Mägi, Reedik R; Waage, Johannes J; Li-Gao, Ruifang R; Chan, Kei Hang Katie KHK; Yao, Jie J; Anasanti, Mila D MD; Chu, Audrey Y AY; Claringbould, Annique A; Heikkinen, Jani J; Hong, Jaeyoung J; Hottenga, Jouke-Jan JJ; Huo, Shaofeng S; Kaakinen, Marika A MA; Louie, Tin T; März, Winfried W; Moreno-Macias, Hortensia H; Ndungu, Anne A; Nelson, Sarah C SC; Nolte, Ilja M IM; North, Kari E KE; Raulerson, Chelsea K CK; Ray, Debashree D; Rohde, Rebecca R; Rybin, Denis D; Schurmann, Claudia C; Sim, Xueling X; Southam, Lorraine L; Stewart, Isobel D ID; Wang, Carol A CA; Wang, Yujie Y; Wu, Peitao P; Zhang, Weihua W; Ahluwalia, Tarunveer S TS; Appel, Emil V R EVR; Bielak, Lawrence F LF; Brody, Jennifer A JA; Burtt, Noël P NP; Cabrera, Claudia P CP; Cade, Brian E BE; Chai, Jin Fang JF; Chai, Xiaoran X; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Chen, Brian H BH; Chitrala, Kumaraswamy Naidu KN; Chiu, Yen-Feng YF; de Haan, Hugoline G HG; Delgado, Graciela E GE; Demirkan, Ayse A; Duan, Qing Q; Engmann, Jorgen J; Fatumo, Segun A SA; Gayán, Javier J; Giulianini, Franco F; Gong, Jung Ho JH; Gustafsson, Stefan S; Hai, Yang Y; Hartwig, Fernando P FP; He, Jing J; Heianza, Yoriko Y; Huang, Tao T; Huerta-Chagoya, Alicia A; Hwang, Mi Yeong MY; Jensen, Richard A RA; Kawaguchi, Takahisa T; Kentistou, Katherine A KA; Kim, Young Jin YJ; Kleber, Marcus E ME; Kooner, Ishminder K IK; Lai, Shuiqing S; Lange, Leslie A LA; Langefeld, Carl D CD; Lauzon, Marie M; Li, Man M; Ligthart, Symen S; Liu, Jun J; Loh, Marie M; Long, Jirong J; Lyssenko, Valeriya V; Mangino, Massimo M; Marzi, Carola C; Montasser, May E ME; Nag, Abhishek A; Nakatochi, Masahiro M; Noce, Damia D; Noordam, Raymond R; Pistis, Giorgio G; Preuss, Michael M; Raffield, Laura L; Rasmussen-Torvik, Laura J LJ; Rich, Stephen S SS; Robertson, Neil R NR; Rueedi, Rico R; Ryan, Kathleen K; Sanna, Serena S; Saxena, Richa R; Schraut, Katharina E KE; Sennblad, Bengt B; Setoh, Kazuya K; Smith, Albert V AV; Sparsø, Thomas T; Strawbridge, Rona J RJ; Takeuchi, Fumihiko F; Tan, Jingyi J; Trompet, Stella S; van den Akker, Erik E; van der Most, Peter J PJ; Verweij, Niek N; Vogel, Mandy M; Wang, Heming H; Wang, Chaolong C; Wang, Nan N; Warren, Helen R HR; Wen, Wanqing W; Wilsgaard, Tom T; Wong, Andrew A; Wood, Andrew R AR; Xie, Tian T; Zafarmand, Mohammad Hadi MH; Zhao, Jing-Hua JH; Zhao, Wei W; Amin, Najaf N; Arzumanyan, Zorayr Z; Astrup, Arne A; Bakker, Stephan J L SJL; Baldassarre, Damiano D; Beekman, Marian M; Bergman, Richard N RN; Bertoni, Alain A; Blüher, Matthias M; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Bowden, Donald W DW; Cai, Qiuyin Q; Campbell, Archie A; Campbell, Harry H; Chang, Yi Cheng YC; de Geus, Eco J C EJC; Dehghan, Abbas A; Du, Shufa S; Eiriksdottir, Gudny G; Farmaki, Aliki Eleni AE; Frånberg, Mattias M; Fuchsberger, Christian C; Gao, Yutang Y; Gjesing, Anette P AP; Goel, Anuj A; Han, Sohee S; Hartman, Catharina A CA; Herder, Christian C; Hicks, Andrew A AA; Hsieh, Chang-Hsun CH; Hsueh, Willa A WA; Ichihara, Sahoko S; Igase, Michiya M; Ikram, M Arfan MA; Johnson, W Craig WC; Jørgensen, Marit E ME; Joshi, Peter K PK; Kalyani, Rita R RR; Kandeel, Fouad R FR; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kiess, Wieland W; Kolcic, Ivana I; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Läll, Kristi K; Lam, Kelvin K; Lawlor, Deborah A DA; Lee, Nanette R NR; Lemaitre, Rozenn N RN; Li, Honglan H; , ; Lin, Shih-Yi SY; Lindström, Jaana J; Linneberg, Allan A; Liu, Jianjun J; Lorenzo, Carlos C; Matsubara, Tatsuaki T; Matsuda, Fumihiko F; Mingrone, Geltrude G; Mooijaart, Simon S; Moon, Sanghoon S; Nabika, Toru T; Nadkarni, Girish N GN; Nadler, Jerry L JL; Nelis, Mari M; Neville, Matt J MJ; Norris, Jill M JM; Ohyagi, Yasumasa Y; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Qi, Qibin Q; Raven, Dennis D; Reilly, Dermot F DF; Reiner, Alex A; Rivideneira, Fernando F; Roll, Kathryn K; Rudan, Igor I; Sabanayagam, Charumathi C; Sandow, Kevin K; Sattar, Naveed N; Schürmann, Annette A; Shi, Jinxiu J; Stringham, Heather M HM; Taylor, Kent D KD; Teslovich, Tanya M TM; Thuesen, Betina B; Timmers, Paul R H J PRHJ; Tremoli, Elena E; Tsai, Michael Y MY; Uitterlinden, Andre A; van Dam, Rob M RM; van Heemst, Diana D; van Hylckama Vlieg, Astrid A; van Vliet-Ostaptchouk, Jana V JV; Vangipurapu, Jagadish J; Vestergaard, Henrik H; Wang, Tao T; Willems van Dijk, Ko K; Zemunik, Tatijana T; Abecasis, Gonçalo R GR; Adair, Linda S LS; Aguilar-Salinas, Carlos Alberto CA; Alarcón-Riquelme, Marta E ME; An, Ping P; Aviles-Santa, Larissa L; Becker, Diane M DM; Beilin, Lawrence J LJ; Bergmann, Sven S; Bisgaard, Hans H; Black, Corri C; Boehnke, Michael M; Boerwinkle, Eric E; Böhm, Bernhard O BO; Bønnelykke, Klaus K; Boomsma, D I DI; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Canouil, Mickaël M; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Cheng, Ching-Yu CY; Collins, Francis S FS; Correa, Adolfo A; Cucca, Francesco F; de Silva, H Janaka HJ; Dedoussis, George G; Elmståhl, Sölve S; Evans, Michele K MK; Ferrannini, Ele E; Ferrucci, Luigi L; Florez, Jose C JC; Franks, Paul W PW; Frayling, Timothy M TM; Froguel, Philippe P; Gigante, Bruna B; Goodarzi, Mark O MO; Gordon-Larsen, Penny P; Grallert, Harald H; Grarup, Niels N; Grimsgaard, Sameline S; Groop, Leif L; Gudnason, Vilmundur V; Guo, Xiuqing X; Hamsten, Anders A; Hansen, Torben T; Hayward, Caroline C; Heckbert, Susan R SR; Horta, Bernardo L BL; Huang, Wei W; Ingelsson, Erik E; James, Pankow S PS; Jarvelin, Marjo-Ritta MR; Jonas, Jost B JB; Jukema, J Wouter JW; Kaleebu, Pontiano P; Kaplan, Robert R; Kardia, Sharon L R SLR; Kato, Norihiro N; Keinanen-Kiukaanniemi, Sirkka M SM; Kim, Bong-Jo BJ; Kivimaki, Mika M; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Kuh, Diana D; Kumari, Meena M; Kutalik, Zoltan Z; Laakso, Markku M; Lakka, Timo A TA; Launer, Lenore J LJ; Leander, Karin K; Li, Huaixing H; Lin, Xu X; Lind, Lars L; Lindgren, Cecilia C; Liu, Simin S; Loos, Ruth J F RJF; Magnusson, Patrik K E PKE; Mahajan, Anubha A; Metspalu, Andres A; Mook-Kanamori, Dennis O DO; Mori, Trevor A TA; Munroe, Patricia B PB; Njølstad, Inger I; O'Connell, Jeffrey R JR; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pedersen, Oluf O; Pennell, Craig E CE; Porteous, David J DJ; Pramstaller, Peter P PP; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Raffel, Leslie J LJ; Rauramaa, Rainer R; Redline, Susan S; Ridker, Paul M PM; Rosendaal, Frits R FR; Saaristo, Timo E TE; Sandhu, Manjinder M; Saramies, Jouko J; Schneiderman, Neil N; Schwarz, Peter P; Scott, Laura J LJ; Selvin, Elizabeth E; Sever, Peter P; Shu, Xiao-Ou XO; Slagboom, P Eline PE; Small, Kerrin S KS; Smith, Blair H BH; Snieder, Harold H; Sofer, Tamar T; Sørensen, Thorkild I A TIA; Spector, Tim D TD; Stanton, Alice A; Steves, Claire J CJ; Stumvoll, Michael M; Sun, Liang L; Tabara, Yasuharu Y; Tai, E Shyong ES; Timpson, Nicholas J NJ; Tönjes, Anke A; Tuomilehto, Jaakko J; Tusie, Teresa T; Uusitupa, Matti M; van der Harst, Pim P; van Duijn, Cornelia C; Vitart, Veronique V; Vollenweider, Peter P; Vrijkotte, Tanja G M TGM; Wagenknecht, Lynne E LE; Walker, Mark M; Wang, Ya X YX; Wareham, Nick J NJ; Watanabe, Richard M RM; Watkins, Hugh H; Wei, Wen B WB; Wickremasinghe, Ananda R AR; Willemsen, Gonneke G; Wilson, James F JF; Wong, Tien-Yin TY; Wu, Jer-Yuarn JY; Xiang, Anny H AH; Yanek, Lisa R LR; Yengo, Loïc L; Yokota, Mitsuhiro M; Zeggini, Eleftheria E; Zheng, Wei W; Zonderman, Alan B AB; Rotter, Jerome I JI; Gloyn, Anna L AL; McCarthy, Mark I MI; Dupuis, Josée J; Meigs, James B JB; Scott, Robert A RA; Prokopenko, Inga I; Leong, Aaron A; Liu, Ching-Ti CT; Parker, Stephen C J SCJ; Mohlke, Karen L KL; Langenberg, Claudia C; Wheeler, Eleanor E; Morris, Andrew P AP; Barroso, Inês I; ,
Publication Date: 2021-06

Variant appearance in text: GC: Pro324Ser
PubMed Link: 34059833
Variant Present in the following documents:
  • EMS120610.pdf
View BVdb publication page



Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation.

Nature Communications
Li, Yanhe Y; Weng, Yuteng Y; Bai, Dandan D; Jia, Yanping Y; Liu, Yingdong Y; Zhang, Yalin Y; Kou, Xiaochen X; Zhao, Yanhong Y; Ruan, Jingling J; Chen, Jiayu J; Yin, Jiqing J; Wang, Hong H; Teng, Xiaoming X; Wang, Zuolin Z; Liu, Wenqiang W; Gao, Shaorong S
Publication Date: 2020-09-14

Variant appearance in text: GC: 970C>T
PubMed Link: 32929070
Variant Present in the following documents:
  • 41467_2020_18391_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: GC: 970C>T
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: GC: Pro324Ser
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: GC: 970C>T
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)
Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D
Publication Date: 2017-08-07

Variant appearance in text: GC: 970C>T
PubMed Link: 28663342
Variant Present in the following documents:
  • 2413FileS2.xlsx, sheet 1
View BVdb publication page



Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.

Bmc Medical Genetics
Bainbridge, Matthew Neil MN; Li, Lili L; Tan, Yanli Y; Cheong, Benjamin Y BY; Marian, Ali J AJ
Publication Date: 2017-03-03

Variant appearance in text: GC: P324S
PubMed Link: 28253841
Variant Present in the following documents:
  • 12881_2017_385_MOESM1_ESM.pdf
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: GC: P324S
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics
Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ
Publication Date: 2013-05

Variant appearance in text: GC: 970C>T
PubMed Link: 23525077
Variant Present in the following documents:
  • NIHMS474888-supplement-6.xlsx, sheet 1
View BVdb publication page