TERT c.2383-342A>G

Variant ID: 5-1271661-T-C

NM_198253.2(TERT):c.2383-342A>G

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Genetic Polymorphisms of the Telomerase Reverse Transcriptase Gene in Relation to Prostate Tumorigenesis, Aggressiveness and Mortality: A Cross-Ancestry Analysis.

Cancers
Zhan, Yongle Y; Ruan, Xiaohao X; Liu, Jiacheng J; Huang, Da D; Huang, Jingyi J; Huang, Jinlun J; Chun, Tsun Tsun Stacia TTS; Ng, Ada Tsui-Lin AT; Wu, Yishuo Y; Wei, Gonghong G; Jiang, Haowen H; Xu, Danfeng D; Na, Rong R
Publication Date: 2023-05-08

Variant appearance in text: rs13172201
PubMed Link: 37174115
Variant Present in the following documents:
  • Main text
  • cancers-15-02650.pdf
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Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.

Gut
Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F
Publication Date: 2022-07-04

Variant appearance in text: rs13172201
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
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The current state of genetic risk models for the development of kidney cancer: a review and validation.

Bju International
Harrison, Hannah H; Li, Nicole N; Saunders, Catherine L CL; Rossi, Sabrina H SH; Dennis, Joe J; Griffin, Simon J SJ; Stewart, Grant D GD; Usher-Smith, Juliet A JA
Publication Date: 2022-11

Variant appearance in text: rs13172201
PubMed Link: 35460182
Variant Present in the following documents:
  • BJU-130-550-s004.pdf
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Identification of Leukocyte telomere length-related genetic variants contributing to predisposition of Esophageal Squamous Cell Carcinoma.

Journal Of Cancer
Li, Ziqiang Z; Song, Yemei Y; Xu, Yeyang Y; Shen, Yue Y; Zhang, Nasha N; Yang, Ming M; Yu, Dianke D
Publication Date: 2020

Variant appearance in text: rs13172201
PubMed Link: 32742450
Variant Present in the following documents:
  • Main text
  • jcav11p5025.pdf
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regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants.

Nucleic Acids Research
Zhang, Shijie S; He, Yukun Y; Liu, Huanhuan H; Zhai, Haoyu H; Huang, Dandan D; Yi, Xianfu X; Dong, Xiaobao X; Wang, Zhao Z; Zhao, Ke K; Zhou, Yao Y; Wang, Jianhua J; Yao, Hongcheng H; Xu, Hang H; Yang, Zhenglu Z; Sham, Pak Chung PC; Chen, Kexin K; Li, Mulin Jun MJ
Publication Date: 2019-12-02

Variant appearance in text: rs13172201
PubMed Link: 31511901
Variant Present in the following documents:
  • Main text
  • gkz774.pdf
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Prediagnostic Leukocyte Telomere Length and Pancreatic Cancer Survival.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Hamada, Tsuyoshi T; Yuan, Chen C; Bao, Ying Y; Zhang, Mingfeng M; Khalaf, Natalia N; Babic, Ana A; Morales-Oyarvide, Vicente V; Cochrane, Barbara B BB; Gaziano, J Michael JM; Giovannucci, Edward L EL; Kraft, Peter P; Manson, JoAnn E JE; Ng, Kimmie K; Nowak, Jonathan A JA; Rohan, Thomas E TE; Sesso, Howard D HD; Stampfer, Meir J MJ; Amundadottir, Laufey T LT; Fuchs, Charles S CS; De Vivo, Immaculata I; Ogino, Shuji S; Wolpin, Brian M BM
Publication Date: 2019-11

Variant appearance in text: rs13172201
PubMed Link: 31427306
Variant Present in the following documents:
  • Main text
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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: TERT: 2383-342A>G; rs13172201
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
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Leucocyte telomere length, genetic variants at the TERT gene region and risk of pancreatic cancer.

Gut
Bao, Ying Y; Prescott, Jennifer J; Yuan, Chen C; Zhang, Mingfeng M; Kraft, Peter P; Babic, Ana A; Morales-Oyarvide, Vicente V; Qian, Zhi Rong ZR; Buring, Julie E JE; Cochrane, Barbara B BB; Gaziano, J Michael JM; Giovannucci, Edward L EL; Manson, JoAnn E JE; Ng, Kimmie K; Ogino, Shuji S; Rohan, Thomas E TE; Sesso, Howard D HD; Stampfer, Meir J MJ; Fuchs, Charles S CS; De Vivo, Immaculata I; Amundadottir, Laufey T LT; Wolpin, Brian M BM
Publication Date: 2017-06

Variant appearance in text: rs13172201
PubMed Link: 27797938
Variant Present in the following documents:
  • Main text
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Telomere structure and maintenance gene variants and risk of five cancer types.

International Journal Of Cancer
Karami, Sara S; Han, Younghun Y; Pande, Mala M; Cheng, Iona I; Rudd, James J; Pierce, Brandon L BL; Nutter, Ellen L EL; Schumacher, Fredrick R FR; Kote-Jarai, Zsofia Z; Lindstrom, Sara S; Witte, John S JS; Fang, Shenying S; Han, Jiali J; Kraft, Peter P; Hunter, David J DJ; Song, Fengju F; Hung, Rayjean J RJ; McKay, James J; Gruber, Stephen B SB; Chanock, Stephen J SJ; Risch, Angela A; Shen, Hongbing H; Haiman, Christopher A CA; Boardman, Lisa L; Ulrich, Cornelia M CM; Casey, Graham G; Peters, Ulrike U; Amin Al Olama, Ali A; Berchuck, Andrew A; Berndt, Sonja I SI; Bezieau, Stephane S; Brennan, Paul P; Brenner, Hermann H; Brinton, Louise L; Caporaso, Neil N; Chan, Andrew T AT; Chang-Claude, Jenny J; Christiani, David C DC; Cunningham, Julie M JM; Easton, Douglas D; Eeles, Rosalind A RA; Eisen, Timothy T; Gala, Manish M; Gallinger, Steven J SJ; Gayther, Simon A SA; Goode, Ellen L EL; Grönberg, Henrik H; Henderson, Brian E BE; Houlston, Richard R; Joshi, Amit D AD; Küry, Sébastien S; Landi, Mari T MT; Le Marchand, Loic L; Muir, Kenneth K; Newcomb, Polly A PA; Permuth-Wey, Jenny J; Pharoah, Paul P; Phelan, Catherine C; Potter, John D JD; Ramus, Susan J SJ; Risch, Harvey H; Schildkraut, Joellen J; Slattery, Martha L ML; Song, Honglin H; Wentzensen, Nicolas N; White, Emily E; Wiklund, Fredrik F; Zanke, Brent W BW; Sellers, Thomas A TA; Zheng, Wei W; Chatterjee, Nilanjan N; Amos, Christopher I CI; Doherty, Jennifer A JA; ,
Publication Date: 2016-12-15

Variant appearance in text: rs13172201
PubMed Link: 27459707
Variant Present in the following documents:
  • Main text
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Genetic variations in the TERT and CLPTM1L gene region and gastrointestinal stromal tumors risk.

Oncotarget
Zhang, Rui R; Zhao, Jian J; Xu, Jian J; Liu, Fang F; Xu, Yongqing Y; Bu, Xianmin X; Dai, Chaoliu C; Song, Chun C
Publication Date: 2015-10-13

Variant appearance in text: rs13172201
PubMed Link: 26372813
Variant Present in the following documents:
  • Main text
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Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.

Human Genetics
Carvajal-Carmona, Luis G LG; O'Mara, Tracy A TA; Painter, Jodie N JN; Lose, Felicity A FA; Dennis, Joe J; Michailidou, Kyriaki K; Tyrer, Jonathan P JP; Ahmed, Shahana S; Ferguson, Kaltin K; Healey, Catherine S CS; Pooley, Karen K; Beesley, Jonathan J; Cheng, Timothy T; Jones, Angela A; Howarth, Kimberley K; Martin, Lynn L; Gorman, Maggie M; Hodgson, Shirley S; , ; , ; Wentzensen, Nicholas N; Fasching, Peter A PA; Hein, Alexander A; Beckmann, Matthias W MW; Renner, Stefan P SP; Dörk, Thilo T; Hillemanns, Peter P; Dürst, Matthias M; Runnebaum, Ingo I; Lambrechts, Diether D; Coenegrachts, Lieve L; Schrauwen, Stefanie S; Amant, Frederic F; Winterhoff, Boris B; Dowdy, Sean C SC; Goode, Ellen L EL; Teoman, Attila A; Salvesen, Helga B HB; Trovik, Jone J; Njolstad, Tormund S TS; Werner, Henrica M J HM; Scott, Rodney J RJ; Ashton, Katie K; Proietto, Tony T; Otton, Geoffrey G; Wersäll, Ofra O; Mints, Miriam M; Tham, Emma E; , ; Hall, Per P; Czene, Kamila K; Liu, Jianjun J; Li, Jingmei J; Hopper, John L JL; Southey, Melissa C MC; , ; Ekici, Arif B AB; Ruebner, Matthias M; Johnson, Nichola N; Peto, Julian J; Burwinkel, Barbara B; Marme, Frederik F; Brenner, Hermann H; Dieffenbach, Aida K AK; Meindl, Alfons A; Brauch, Hiltrud H; , ; Lindblom, Annika A; Depreeuw, Jeroen J; Moisse, Matthieu M; Chang-Claude, Jenny J; Rudolph, Anja A; Couch, Fergus J FJ; Olson, Janet E JE; Giles, Graham G GG; Bruinsma, Fiona F; Cunningham, Julie M JM; Fridley, Brooke L BL; Børresen-Dale, Anne-Lise AL; Kristensen, Vessela N VN; Cox, Angela A; Swerdlow, Anthony J AJ; Orr, Nicholas N; Bolla, Manjeet K MK; Wang, Qin Q; Weber, Rachel Palmieri RP; Chen, Zhihua Z; Shah, Mitul M; Pharoah, Paul D P PD; Dunning, Alison M AM; Tomlinson, Ian I; Easton, Douglas F DF; Spurdle, Amanda B AB; Thompson, Deborah J DJ
Publication Date: 2015-02

Variant appearance in text: rs13172201
PubMed Link: 25487306
Variant Present in the following documents:
  • Main text
  • 439_2014_Article_1515.pdf
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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.

Human Molecular Genetics
Wang, Zhaoming Z; Zhu, Bin B; Zhang, Mingfeng M; Parikh, Hemang H; Jia, Jinping J; Chung, Charles C CC; Sampson, Joshua N JN; Hoskins, Jason W JW; Hutchinson, Amy A; Burdette, Laurie L; Ibrahim, Abdisamad A; Hautman, Christopher C; Raj, Preethi S PS; Abnet, Christian C CC; Adjei, Andrew A AA; Ahlbom, Anders A; Albanes, Demetrius D; Allen, Naomi E NE; Ambrosone, Christine B CB; Aldrich, Melinda M; Amiano, Pilar P; Amos, Christopher C; Andersson, Ulrika U; Andriole, Gerald G; Andrulis, Irene L IL; Arici, Cecilia C; Arslan, Alan A AA; Austin, Melissa A MA; Baris, Dalsu D; Barkauskas, Donald A DA; Bassig, Bryan A BA; Beane Freeman, Laura E LE; Berg, Christine D CD; Berndt, Sonja I SI; Bertazzi, Pier Alberto PA; Biritwum, Richard B RB; Black, Amanda A; Blot, William W; Boeing, Heiner H; Boffetta, Paolo P; Bolton, Kelly K; Boutron-Ruault, Marie-Christine MC; Bracci, Paige M PM; Brennan, Paul P; Brinton, Louise A LA; Brotzman, Michelle M; Bueno-de-Mesquita, H Bas HB; Buring, Julie E JE; Butler, Mary Ann MA; Cai, Qiuyin Q; Cancel-Tassin, Geraldine G; Canzian, Federico F; Cao, Guangwen G; Caporaso, Neil E NE; Carrato, Alfredo A; Carreon, Tania T; Carta, Angela A; Chang, Gee-Chen GC; Chang, I-Shou IS; Chang-Claude, Jenny J; Che, Xu X; Chen, Chien-Jen CJ; Chen, Chih-Yi CY; Chen, Chung-Hsing CH; Chen, Constance C; Chen, Kuan-Yu KY; Chen, Yuh-Min YM; Chokkalingam, Anand P AP; Chu, Lisa W LW; Clavel-Chapelon, Francoise F; Colditz, Graham A GA; Colt, Joanne S JS; Conti, David D; Cook, Michael B MB; Cortessis, Victoria K VK; Crawford, E David ED; Cussenot, Olivier O; Davis, Faith G FG; De Vivo, Immaculata I; Deng, Xiang X; Ding, Ti T; Dinney, Colin P CP; Di Stefano, Anna Luisa AL; Diver, W Ryan WR; Duell, Eric J EJ; Elena, Joanne W JW; Fan, Jin-Hu JH; Feigelson, Heather Spencer HS; Feychting, Maria M; Figueroa, Jonine D JD; Flanagan, Adrienne M AM; Fraumeni, Joseph F JF; Freedman, Neal D ND; Fridley, Brooke L BL; Fuchs, Charles S CS; Gago-Dominguez, Manuela M; Gallinger, Steven S; Gao, Yu-Tang YT; Gapstur, Susan M SM; Garcia-Closas, Montserrat M; Garcia-Closas, Reina R; Gastier-Foster, Julie M JM; Gaziano, J Michael JM; Gerhard, Daniela S DS; Giffen, Carol A CA; Giles, Graham G GG; Gillanders, Elizabeth M EM; Giovannucci, Edward L EL; Goggins, Michael M; Gokgoz, Nalan N; Goldstein, Alisa M AM; Gonzalez, Carlos C; Gorlick, Richard R; Greene, Mark H MH; Gross, Myron M; Grossman, H Barton HB; Grubb, Robert R; Gu, Jian J; Guan, Peng P; Haiman, Christopher A CA; Hallmans, Goran G; Hankinson, Susan E SE; Harris, Curtis C CC; Hartge, Patricia P; Hattinger, Claudia C; Hayes, Richard B RB; He, Qincheng Q; Helman, Lee L; Henderson, Brian E BE; Henriksson, Roger R; Hoffman-Bolton, Judith J; Hohensee, Chancellor C; Holly, Elizabeth A EA; Hong, Yun-Chul YC; Hoover, Robert N RN; Hosgood, H Dean HD; Hsiao, Chin-Fu CF; Hsing, Ann W AW; Hsiung, Chao Agnes CA; Hu, Nan N; Hu, Wei W; Hu, Zhibin Z; Huang, Ming-Shyan MS; Hunter, David J DJ; Inskip, Peter D PD; Ito, Hidemi H; Jacobs, Eric J EJ; Jacobs, Kevin B KB; Jenab, Mazda M; Ji, Bu-Tian BT; Johansen, Christoffer C; Johansson, Mattias M; Johnson, Alison A; Kaaks, Rudolf R; Kamat, Ashish M AM; Kamineni, Aruna A; Karagas, Margaret M; Khanna, Chand C; Khaw, Kay-Tee KT; Kim, Christopher C; Kim, In-Sam IS; Kim, Jin Hee JH; Kim, Yeul Hong YH; Kim, Young-Chul YC; Kim, Young Tae YT; Kang, Chang Hyun CH; Jung, Yoo Jin YJ; Kitahara, Cari M CM; Klein, Alison P AP; Klein, Robert R; Kogevinas, Manolis M; Koh, Woon-Puay WP; Kohno, Takashi T; Kolonel, Laurence N LN; Kooperberg, Charles C; Kratz, Christian P CP; Krogh, Vittorio V; Kunitoh, Hideo H; Kurtz, Robert C RC; Kurucu, Nilgun N; Lan, Qing Q; Lathrop, Mark M; Lau, Ching C CC; Lecanda, Fernando F; Lee, Kyoung-Mu KM; Lee, Maxwell P MP; Le Marchand, Loic L; Lerner, Seth P SP; Li, Donghui D; Liao, Linda M LM; Lim, Wei-Yen WY; Lin, Dongxin D; Lin, Jie J; Lindstrom, Sara S; Linet, Martha S MS; Lissowska, Jolanta J; Liu, Jianjun J; Ljungberg, Börje B; Lloreta, Josep J; Lu, Daru D; Ma, Jing J; Malats, Nuria N; Mannisto, Satu S; Marina, Neyssa N; Mastrangelo, Giuseppe G; Matsuo, Keitaro K; McGlynn, Katherine A KA; McKean-Cowdin, Roberta R; McNeill, Lorna H LH; McWilliams, Robert R RR; Melin, Beatrice S BS; Meltzer, Paul S PS; Mensah, James E JE; Miao, Xiaoping X; Michaud, Dominique S DS; Mondul, Alison M AM; Moore, Lee E LE; Muir, Kenneth K; Niwa, Shelley S; Olson, Sara H SH; Orr, Nick N; Panico, Salvatore S; Park, Jae Yong JY; Patel, Alpa V AV; Patino-Garcia, Ana A; Pavanello, Sofia S; Peeters, Petra H M PH; Peplonska, Beata B; Peters, Ulrike U; Petersen, Gloria M GM; Picci, Piero P; Pike, Malcolm C MC; Porru, Stefano S; Prescott, Jennifer J; Pu, Xia X; Purdue, Mark P MP; Qiao, You-Lin YL; Rajaraman, Preetha P; Riboli, Elio E; Risch, Harvey A HA; Rodabough, Rebecca J RJ; Rothman, Nathaniel N; Ruder, Avima M AM; Ryu, Jeong-Seon JS; Sanson, Marc M; Schned, Alan A; Schumacher, Fredrick R FR; Schwartz, Ann G AG; Schwartz, Kendra L KL; Schwenn, Molly M; Scotlandi, Katia K; Seow, Adeline A; Serra, Consol C; Serra, Massimo M; Sesso, Howard D HD; Severi, Gianluca G; Shen, Hongbing H; Shen, Min M; Shete, Sanjay S; Shiraishi, Kouya K; Shu, Xiao-Ou XO; Siddiq, Afshan A; Sierrasesumaga, Luis L; Sierri, Sabina S; Loon Sihoe, Alan Dart AD; Silverman, Debra T DT; Simon, Matthias M; Southey, Melissa C MC; Spector, Logan L; Spitz, Margaret M; Stampfer, Meir M; Stattin, Par P; Stern, Mariana C MC; Stevens, Victoria L VL; Stolzenberg-Solomon, Rachael Z RZ; Stram, Daniel O DO; Strom, Sara S SS; Su, Wu-Chou WC; Sund, Malin M; Sung, Sook Whan SW; Swerdlow, Anthony A; Tan, Wen W; Tanaka, Hideo H; Tang, Wei W; Tang, Ze-Zhang ZZ; Tardon, Adonina A; Tay, Evelyn E; Taylor, Philip R PR; Tettey, Yao Y; Thomas, David M DM; Tirabosco, Roberto R; Tjonneland, Anne A; Tobias, Geoffrey S GS; Toro, Jorge R JR; Travis, Ruth C RC; Trichopoulos, Dimitrios D; Troisi, Rebecca R; Truelove, Ann A; Tsai, Ying-Huang YH; Tucker, Margaret A MA; Tumino, Rosario R; Van Den Berg, David D; Van Den Eeden, Stephen K SK; Vermeulen, Roel R; Vineis, Paolo P; Visvanathan, Kala K; Vogel, Ulla U; Wang, Chaoyu C; Wang, Chengfeng C; Wang, Junwen J; Wang, Sophia S SS; Weiderpass, Elisabete E; Weinstein, Stephanie J SJ; Wentzensen, Nicolas N; Wheeler, William W; White, Emily E; Wiencke, John K JK; Wolk, Alicja A; Wolpin, Brian M BM; Wong, Maria Pik MP; Wrensch, Margaret M; Wu, Chen C; Wu, Tangchun T; Wu, Xifeng X; Wu, Yi-Long YL; Wunder, Jay S JS; Xiang, Yong-Bing YB; Xu, Jun J; Yang, Hannah P HP; Yang, Pan-Chyr PC; Yatabe, Yasushi Y; Ye, Yuanqing Y; Yeboah, Edward D ED; Yin, Zhihua Z; Ying, Chen C; Yu, Chong-Jen CJ; Yu, Kai K; Yuan, Jian-Min JM; Zanetti, Krista A KA; Zeleniuch-Jacquotte, Anne A; Zheng, Wei W; Zhou, Baosen B; Mirabello, Lisa L; Savage, Sharon A SA; Kraft, Peter P; Chanock, Stephen J SJ; Yeager, Meredith M; Landi, Maria Terese MT; Shi, Jianxin J; Chatterjee, Nilanjan N; Amundadottir, Laufey T LT
Publication Date: 2014-12-15

Variant appearance in text: rs13172201
PubMed Link: 25027329
Variant Present in the following documents:
  • Main text
View BVdb publication page