L3MBTL3 c.548C>A ;(p.T183N)

Variant ID: 6-130374102-C-A

NM_032438.2(L3MBTL3):c.548C>A;(p.T183N)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: L3MBTL3: T183N
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: L3MBTL3: 548C>A; Thr183Asn
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs9388768
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.

Human Molecular Genetics
Alcina, Antonio A; Fedetz, Maria M; Vidal-Cobo, Isabel I; Andrés-León, Eduardo E; García-Sánchez, Maria-Isabel MI; Barroso-Del-Jesus, Alicia A; Eichau, Sara S; Gil-Varea, Elia E; Luisa-Maria Villar, ; Saiz, Albert A; Leyva, Laura L; Vandenbroeck, Koen K; Otaegui, David D; Izquierdo, Guillermo G; Comabella, Manuel M; Urcelay, Elena E; Matesanz, Fuencisla F
Publication Date: 2022-07-07

Variant appearance in text: rs9388768
PubMed Link: 35088080
Variant Present in the following documents:
  • Main text
  • ddac009.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 11
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: L3MBTL3: 548C>A; T183N; rs9388768
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: L3MBTL3: T183N; rs9388768
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: L3MBTL3: 548C>A; T183N; rs9388768
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: L3MBTL3: 548C>A; T183N; rs9388768
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: L3MBTL3: T183N
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
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: L3MBTL3: T183N; rs9388768
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Nature Genetics
Fachal, Laura L; Aschard, Hugues H; Beesley, Jonathan J; Barnes, Daniel R DR; Allen, Jamie J; Kar, Siddhartha S; Pooley, Karen A KA; Dennis, Joe J; Michailidou, Kyriaki K; Turman, Constance C; Soucy, Penny P; Lemaçon, Audrey A; Lush, Michael M; Tyrer, Jonathan P JP; Ghoussaini, Maya M; Moradi Marjaneh, Mahdi M; Jiang, Xia X; Agata, Simona S; Aittomäki, Kristiina K; Alonso, M Rosario MR; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arason, Adalgeir A; Arndt, Volker V; Aronson, Kristan J KJ; Arun, Banu K BK; Auber, Bernd B; Auer, Paul L PL; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bermisheva, Marina M; Białkowska, Katarzyna K; Blanco, Amie M AM; Blomqvist, Carl C; Blot, William W; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bonanni, Bernardo B; Borg, Ake A; Bosse, Kristin K; Brauch, Hiltrud H; Brenner, Hermann H; Briceno, Ignacio I; Brock, Ian W IW; Brooks-Wilson, Angela A; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Cai, Qiuyin Q; Caldés, Trinidad T; Caligo, Maria A MA; Camp, Nicola J NJ; Campbell, Ian I; Canzian, Federico F; Carroll, Jason S JS; Carter, Brian D BD; Castelao, Jose E JE; Chiquette, Jocelyne J; Christiansen, Hans H; Chung, Wendy K WK; Claes, Kathleen B M KBM; Clarke, Christine L CL; , ; , ; Collée, J Margriet JM; Cornelissen, Sten S; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Cybulski, Cezary C; Czene, Kamila K; Daly, Mary B MB; de la Hoya, Miguel M; Devilee, Peter P; Diez, Orland O; Ding, Yuan Chun YC; Dite, Gillian S GS; Domchek, Susan M SM; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Droit, Arnaud A; Dubois, Stéphane S; Dumont, Martine M; Duran, Mercedes M; Durcan, Lorraine L; Dwek, Miriam M; Eccles, Diana M DM; Engel, Christoph C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Fletcher, Olivia O; Floris, Giuseppe G; Flyger, Henrik H; Foretova, Lenka L; Foulkes, William D WD; Friedman, Eitan E; Fritschi, Lin L; Frost, Debra D; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gambino, Gaetana G; Ganz, Patricia A PA; Gapstur, Susan M SM; Garber, Judy J; García-Sáenz, José A JA; Gaudet, Mia M MM; Georgoulias, Vassilios V; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Tibiletti, Maria Grazia MG; Greene, Mark H MH; Grip, Mervi M; Gronwald, Jacek J; Grundy, Anne A; Guénel, Pascal P; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hartikainen, Jaana M JM; Hartman, Mikael M; He, Wei W; Healey, Catherine S CS; Heemskerk-Gerritsen, Bernadette A M BAM; Heyworth, Jane J; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Anthony A; Huang, Guanmengqian G; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Iwasaki, Motoki M; Jager, Agnes A; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; Jankowitz, Rachel C RC; John, Esther M EM; Johnson, Nichola N; Jones, Michael E ME; Jukkola-Vuorinen, Arja A; Jung, Audrey A; Kaaks, Rudolf R; Kang, Daehee D; Kapoor, Pooja Middha PM; Karlan, Beth Y BY; Keeman, Renske R; Kerin, Michael J MJ; Khusnutdinova, Elza E; Kiiski, Johanna I JI; Kirk, Judy J; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Konstantopoulou, Irene I; Kosma, Veli-Matti VM; Koutros, Stella S; Kubelka-Sabit, Katerina K; Kwong, Ava A; Kyriacou, Kyriacos K; Laitman, Yael Y; Lambrechts, Diether D; Lee, Eunjung E; Leslie, Goska G; Lester, Jenny J; Lesueur, Fabienne F; Lindblom, Annika A; Lo, Wing-Yee WY; Long, Jirong J; Lophatananon, Artitaya A; Loud, Jennifer T JT; Lubiński, Jan J; MacInnis, Robert J RJ; Maishman, Tom T; Makalic, Enes E; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Maria Elena ME; Matsuo, Keitaro K; Maurer, Tabea T; Mavroudis, Dimitrios D; Mayes, Rebecca R; McGuffog, Lesley L; McLean, Catriona C; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Miller, Nicola N; Montagna, Marco M; Moreno, Fernando F; Muir, Kenneth K; Mulligan, Anna Marie AM; Muñoz-Garzon, Victor M VM; Muranen, Taru A TA; Narod, Steven A SA; Nassir, Rami R; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Nielsen, Finn C FC; Nikitina-Zake, Liene L; Norman, Aaron A; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Orr, Nick N; Osorio, Ana A; Pankratz, V Shane VS; Papp, Janos J; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Parsons, Michael T MT; Paul, James J; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Peshkin, Beth B; Peterlongo, Paolo P; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Prajzendanc, Karolina K; Prentice, Ross R; Presneau, Nadege N; Prokofyeva, Darya D; Pujana, Miquel Angel MA; Pylkäs, Katri K; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rau-Murthy, Rohini R; Rennert, Gad G; Risch, Harvey A HA; Robson, Mark M; Romero, Atocha A; Rossing, Maria M; Saloustros, Emmanouil E; Sánchez-Herrero, Estela E; Sandler, Dale P DP; Santamariña, Marta M; Saunders, Christobel C; Sawyer, Elinor J EJ; Scheuner, Maren T MT; Schmidt, Daniel F DF; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schöttker, Ben B; Schürmann, Peter P; Scott, Christopher C; Scott, Rodney J RJ; Senter, Leigha L; Seynaeve, Caroline M CM; Shah, Mitul M; Sharma, Priyanka P; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Singer, Christian F CF; Slavin, Thomas P TP; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Spurdle, Amanda B AB; Stone, Jennifer J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tan, Yen Yen YY; Tapper, William J WJ; Taylor, Jack A JA; Teixeira, Manuel R MR; Tengström, Maria M; Teo, Soo Hwang SH; Terry, Mary Beth MB; Teulé, Alex A; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Torres, Diana D; Torres-Mejía, Gabriela G; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Tzardi, Maria M; Ulmer, Hans-Ulrich HU; Vachon, Celine M CM; van Asperen, Christi J CJ; van der Kolk, Lizet E LE; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Vijai, Joseph J; Vogel, Maartje J MJ; Wang, Qin Q; Wappenschmidt, Barbara B; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wildiers, Hans H; Winqvist, Robert R; Wolk, Alicja A; Wu, Anna H AH; Yannoukakos, Drakoulis D; Zhang, Yan Y; Zheng, Wei W; Hunter, David D; Pharoah, Paul D P PDP; Chang-Claude, Jenny J; García-Closas, Montserrat M; Schmidt, Marjanka K MK; Milne, Roger L RL; Kristensen, Vessela N VN; French, Juliet D JD; Edwards, Stacey L SL; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Simard, Jacques J; Easton, Douglas F DF; Kraft, Peter P; Dunning, Alison M AM
Publication Date: 2020-01

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 31911677
Variant Present in the following documents:
  • EMS84721-supplement-Supplementary_Table_5.xlsx, sheet 3
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: L3MBTL3: T183N
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: L3MBTL3: 548C>A; Thr183Asn
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 10
  • Supplementary_Data2.xlsx, sheet 9
  • Supplementary_Data2.xlsx, sheet 6
  • Supplementary_Data2.xlsx, sheet 7
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Journal Of Medical Genetics
Codina-Sola, Marta M; Costa-Roger, Mar M; Pérez-García, Debora D; Flores, Raquel R; Palacios-Verdú, Maria Gabriela MG; Cusco, Ivon I; Pérez-Jurado, Luis Alberto LA
Publication Date: 2019-12

Variant appearance in text: rs9388768
PubMed Link: 31413120
Variant Present in the following documents:
  • jmedgenet-2019-106080supp001.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs9388768
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
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: rs9388768
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_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: L3MBTL3: T183N; rs9388768
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
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: L3MBTL3: 548C>A; Thr183Asn; rs9388768
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



Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One
Kim, Stuart K SK
Publication Date: 2018

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 30048462
Variant Present in the following documents:
  • pone.0200785.s003.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: L3MBTL3: T183N; rs9388768
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs9388768
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs9388768
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: L3MBTL3: T183N; rs9388768
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
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: L3MBTL3: T183N; rs9388768
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: L3MBTL3: T183N; rs9388768
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: L3MBTL3: T183N
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
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: L3MBTL3: T183N; rs9388768
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: L3MBTL3: T183N
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s002.xls, sheet 3
  • pone.0109576.s003.xls, sheet 3
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: L3MBTL3: T183N; rs9388768
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs9388768
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

Nature Genetics
Berndt, Sonja I SI; Gustafsson, Stefan S; Mägi, Reedik R; Ganna, Andrea A; Wheeler, Eleanor E; Feitosa, Mary F MF; Justice, Anne E AE; Monda, Keri L KL; Croteau-Chonka, Damien C DC; Day, Felix R FR; Esko, Tõnu T; Fall, Tove T; Ferreira, Teresa T; Gentilini, Davide D; Jackson, Anne U AU; Luan, Jian'an J; Randall, Joshua C JC; Vedantam, Sailaja S; Willer, Cristen J CJ; Winkler, Thomas W TW; Wood, Andrew R AR; Workalemahu, Tsegaselassie T; Hu, Yi-Juan YJ; Lee, Sang Hong SH; Liang, Liming L; Lin, Dan-Yu DY; Min, Josine L JL; Neale, Benjamin M BM; Thorleifsson, Gudmar G; Yang, Jian J; Albrecht, Eva E; Amin, Najaf N; Bragg-Gresham, Jennifer L JL; Cadby, Gemma G; den Heijer, Martin M; Eklund, Niina N; Fischer, Krista K; Goel, Anuj A; Hottenga, Jouke-Jan JJ; Huffman, Jennifer E JE; Jarick, Ivonne I; Johansson, Åsa Å; Johnson, Toby T; Kanoni, Stavroula S; Kleber, Marcus E ME; König, Inke R IR; Kristiansson, Kati K; Kutalik, Zoltán Z; Lamina, Claudia C; Lecoeur, Cecile C; Li, Guo G; Mangino, Massimo M; McArdle, Wendy L WL; Medina-Gomez, Carolina C; Müller-Nurasyid, Martina M; Ngwa, Julius S JS; Nolte, Ilja M IM; Paternoster, Lavinia L; Pechlivanis, Sonali S; Perola, Markus M; Peters, Marjolein J MJ; Preuss, Michael M; Rose, Lynda M LM; Shi, Jianxin J; Shungin, Dmitry D; Smith, Albert Vernon AV; Strawbridge, Rona J RJ; Surakka, Ida I; Teumer, Alexander A; Trip, Mieke D MD; Tyrer, Jonathan J; Van Vliet-Ostaptchouk, Jana V JV; Vandenput, Liesbeth L; Waite, Lindsay L LL; Zhao, Jing Hua JH; Absher, Devin D; Asselbergs, Folkert W FW; Atalay, Mustafa M; Attwood, Antony P AP; Balmforth, Anthony J AJ; Basart, Hanneke H; Beilby, John J; Bonnycastle, Lori L LL; Brambilla, Paolo P; Bruinenberg, Marcel M; Campbell, Harry H; Chasman, Daniel I DI; Chines, Peter S PS; Collins, Francis S FS; Connell, John M JM; Cookson, William O WO; de Faire, Ulf U; de Vegt, Femmie F; Dei, Mariano M; Dimitriou, Maria M; Edkins, Sarah S; Estrada, Karol K; Evans, David M DM; Farrall, Martin M; Ferrario, Marco M MM; Ferrières, Jean J; Franke, Lude L; Frau, Francesca F; Gejman, Pablo V PV; Grallert, Harald H; Grönberg, Henrik H; Gudnason, Vilmundur V; Hall, Alistair S AS; Hall, Per P; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Heard-Costa, Nancy L NL; Heath, Andrew C AC; Hebebrand, Johannes J; Homuth, Georg G; Hu, Frank B FB; Hunt, Sarah E SE; Hyppönen, Elina E; Iribarren, Carlos C; Jacobs, Kevin B KB; Jansson, John-Olov JO; Jula, Antti A; Kähönen, Mika M; Kathiresan, Sekar S; Kee, Frank F; Khaw, Kay-Tee KT; Kivimäki, Mika M; Koenig, Wolfgang W; Kraja, Aldi T AT; Kumari, Meena M; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laitinen, Jaana H JH; Lakka, Timo A TA; Langenberg, Claudia C; Launer, Lenore J LJ; Lind, Lars L; Lindström, Jaana J; Liu, Jianjun J; Liuzzi, Antonio A; Lokki, Marja-Liisa ML; Lorentzon, Mattias M; Madden, Pamela A PA; Magnusson, Patrik K PK; Manunta, Paolo P; Marek, Diana D; März, Winfried W; Mateo Leach, Irene I; McKnight, Barbara B; Medland, Sarah E SE; Mihailov, Evelin E; Milani, Lili L; Montgomery, Grant W GW; Mooser, Vincent V; Mühleisen, Thomas W TW; Munroe, Patricia B PB; Musk, Arthur W AW; Narisu, Narisu N; Navis, Gerjan G; Nicholson, George G; Nohr, Ellen A EA; Ong, Ken K KK; Oostra, Ben A BA; Palmer, Colin N A CN; Palotie, Aarno A; Peden, John F JF; Pedersen, Nancy N; Peters, Annette A; Polasek, Ozren O; Pouta, Anneli A; Pramstaller, Peter P PP; Prokopenko, Inga I; Pütter, Carolin C; Radhakrishnan, Aparna A; Raitakari, Olli O; Rendon, Augusto A; Rivadeneira, Fernando F; Rudan, Igor I; Saaristo, Timo E TE; Sambrook, Jennifer G JG; Sanders, Alan R AR; Sanna, Serena S; Saramies, Jouko J; Schipf, Sabine S; Schreiber, Stefan S; Schunkert, Heribert H; Shin, So-Youn SY; Signorini, Stefano S; Sinisalo, Juha J; Skrobek, Boris B; Soranzo, Nicole N; Stančáková, Alena A; Stark, Klaus K; Stephens, Jonathan C JC; Stirrups, Kathleen K; Stolk, Ronald P RP; Stumvoll, Michael M; Swift, Amy J AJ; Theodoraki, Eirini V EV; Thorand, Barbara B; Tregouet, David-Alexandre DA; Tremoli, Elena E; Van der Klauw, Melanie M MM; van Meurs, Joyce B J JB; Vermeulen, Sita H SH; Viikari, Jorma J; Virtamo, Jarmo J; Vitart, Veronique V; Waeber, Gérard G; Wang, Zhaoming Z; Widén, Elisabeth E; Wild, Sarah H SH; Willemsen, Gonneke G; Winkelmann, Bernhard R BR; Witteman, Jacqueline C M JC; Wolffenbuttel, Bruce H R BH; Wong, Andrew A; Wright, Alan F AF; Zillikens, M Carola MC; Amouyel, Philippe P; Boehm, Bernhard O BO; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Chanock, Stephen J SJ; Cupples, L Adrienne LA; Cusi, Daniele D; Dedoussis, George V GV; Erdmann, Jeanette J; Eriksson, Johan G JG; Franks, Paul W PW; Froguel, Philippe P; Gieger, Christian C; Gyllensten, Ulf U; Hamsten, Anders A; Harris, Tamara B TB; Hengstenberg, Christian C; Hicks, Andrew A AA; Hingorani, Aroon A; Hinney, Anke A; Hofman, Albert A; Hovingh, Kees G KG; Hveem, Kristian K; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Jöckel, Karl-Heinz KH; Keinanen-Kiukaanniemi, Sirkka M SM; Kiemeney, Lambertus A LA; Kuh, Diana D; Laakso, Markku M; Lehtimäki, Terho T; Levinson, Douglas F DF; Martin, Nicholas G NG; Metspalu, Andres A; Morris, Andrew D AD; Nieminen, Markku S MS; Njølstad, Inger I; Ohlsson, Claes C; Oldehinkel, Albertine J AJ; Ouwehand, Willem H WH; Palmer, Lyle J LJ; Penninx, Brenda B; Power, Chris C; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Rauramaa, Rainer R; Ridker, Paul M PM; Ripatti, Samuli S; Salomaa, Veikko V; Samani, Nilesh J NJ; Snieder, Harold H; Sørensen, Thorkild I A TI; Spector, Timothy D TD; Stefansson, Kari K; Tönjes, Anke A; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Vollenweider, Peter P; Wallaschofski, Henri H; Wareham, Nicholas J NJ; Watkins, Hugh H; Wichmann, H-Erich HE; Wilson, James F JF; Abecasis, Goncalo R GR; Assimes, Themistocles L TL; Barroso, Inês I; Boehnke, Michael M; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Frayling, Timothy T; Groop, Leif C LC; Haritunian, Talin T; Heid, Iris M IM; Hunter, David D; Kaplan, Robert C RC; Karpe, Fredrik F; Moffatt, Miriam F MF; Mohlke, Karen L KL; O'Connell, Jeffrey R JR; Pawitan, Yudi Y; Schadt, Eric E EE; Schlessinger, David D; Steinthorsdottir, Valgerdur V; Strachan, David P DP; Thorsteinsdottir, Unnur U; van Duijn, Cornelia M CM; Visscher, Peter M PM; Di Blasio, Anna Maria AM; Hirschhorn, Joel N JN; Lindgren, Cecilia M CM; Morris, Andrew P AP; Meyre, David D; Scherag, André A; McCarthy, Mark I MI; Speliotes, Elizabeth K EK; North, Kari E KE; Loos, Ruth J F RJ; Ingelsson, Erik E
Publication Date: 2013-05

Variant appearance in text: rs9388768
PubMed Link: 23563607
Variant Present in the following documents:
  • NIHMS536922-supplement-1.pdf
View BVdb publication page



Variants in CXADR and F2RL1 are associated with blood pressure and obesity in African-Americans in regions identified through admixture mapping.

Journal Of Hypertension
Shetty, Priya B PB; Tang, Hua H; Tayo, Bamidele O BO; Morrison, Alanna C AC; Hanis, Craig L CL; Rao, Dabeeru C DC; Young, Jeffery H JH; Fox, Ervin R ER; Boerwinkle, Eric E; Cooper, Richard S RS; Risch, Neil J NJ; Zhu, Xiaofeng X; ,
Publication Date: 2012-10

Variant appearance in text: rs9388768
PubMed Link: 22914544
Variant Present in the following documents:
  • Main text
View BVdb publication page



A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

Plos One
Bolze, Alexandre A; Abhyankar, Avinash A; Grant, Audrey V AV; Patel, Bhavi B; Yadav, Ruchi R; Byun, Minji M; Caillez, Daniel D; Emile, Jean-Francois JF; Pastor-Anglada, Marçal M; Abel, Laurent L; Puel, Anne A; Govindarajan, Rajgopal R; de Pontual, Loic L; Casanova, Jean-Laurent JL
Publication Date: 2012

Variant appearance in text: rs9388768
PubMed Link: 22238637
Variant Present in the following documents:
View BVdb publication page