TCAP c.453A>C ;(p.A151=)

Variant ID: 17-37822311-A-C

NM_003673.3(TCAP):c.453A>C;(p.A151=)

This variant was identified in 36 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: N/A
PubMed Link: 36991000
Variant Present in the following documents:
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
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: N/A
PubMed Link: 36467812
Variant Present in the following documents:
View BVdb publication page



Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine
Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 36277747
Variant Present in the following documents:
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: N/A
PubMed Link: 36241656
Variant Present in the following documents:
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: N/A
PubMed Link: 36075891
Variant Present in the following documents:
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: N/A
PubMed Link: 33791233
Variant Present in the following documents:
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: N/A
PubMed Link: 33420045
Variant Present in the following documents:
View BVdb publication page



Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.

Stem Cell Reports
Brandão, Karina O KO; van den Brink, Lettine L; Miller, Duncan C DC; Grandela, Catarina C; van Meer, Berend J BJ; Mol, Mervyn P H MPH; de Korte, Tessa T; Tertoolen, Leon G J LGJ; Mummery, Christine L CL; Sala, Luca L; Verkerk, Arie O AO; Davis, Richard P RP
Publication Date: 2020-11-10

Variant appearance in text: rs1053651
PubMed Link: 33176122
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine
Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M
Publication Date: 2020

Variant appearance in text: TCAP: 453A>C
PubMed Link: 33110626
Variant Present in the following documents:
  • 41525_2020_153_MOESM1_ESM.pdf
View BVdb publication page



Genome-wide pathogenesis interpretation using a heat diffusion-based systems genetics method and implications for gene function annotation.

Molecular Genetics & Genomic Medicine
Quan, Yuan Y; Zhang, Qing-Ye QY; Lv, Bo-Min BM; Xu, Rui-Feng RF; Zhang, Hong-Yu HY
Publication Date: 2020-10

Variant appearance in text: N/A
PubMed Link: 32869547
Variant Present in the following documents:
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: rs1053651
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: N/A
PubMed Link: 32046637
Variant Present in the following documents:
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: N/A
PubMed Link: 31640808
Variant Present in the following documents:
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: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



Sports-related sudden cardiac death due to myocardial diseases on a population from 1-35 years: a multicentre forensic study in Spain.

Forensic Sciences Research
Morentin, Benito B; Suárez-Mier, M Paz MP; Monzó, Ana A; Molina, Pilar P; Lucena, Joaquín S JS
Publication Date: 2019

Variant appearance in text: TCAP: A151A
PubMed Link: 31489391
Variant Present in the following documents:
  • Main text
  • TFSR_4_1633729.pdf
View BVdb publication page



New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders.

Nature Human Behaviour
Evangelou, Evangelos E; Gao, He H; Chu, Congying C; Ntritsos, Georgios G; Blakeley, Paul P; Butts, Andrew R AR; Pazoki, Raha R; Suzuki, Hideaki H; Koskeridis, Fotios F; Yiorkas, Andrianos M AM; Karaman, Ibrahim I; Elliott, Joshua J; Luo, Qiang Q; Aeschbacher, Stefanie S; Bartz, Traci M TM; Baumeister, Sebastian E SE; Braund, Peter S PS; Brown, Michael R MR; Brody, Jennifer A JA; Clarke, Toni-Kim TK; Dimou, Niki N; Faul, Jessica D JD; Homuth, Georg G; Jackson, Anne U AU; Kentistou, Katherine A KA; Joshi, Peter K PK; Lemaitre, Rozenn N RN; Lind, Penelope A PA; Lyytikäinen, Leo-Pekka LP; Mangino, Massimo M; Milaneschi, Yuri Y; Nelson, Christopher P CP; Nolte, Ilja M IM; Perälä, Mia-Maria MM; Polasek, Ozren O; Porteous, David D; Ratliff, Scott M SM; Smith, Jennifer A JA; Stančáková, Alena A; Teumer, Alexander A; Tuominen, Samuli S; Thériault, Sébastien S; Vangipurapu, Jagadish J; Whitfield, John B JB; Wood, Alexis A; Yao, Jie J; Yu, Bing B; Zhao, Wei W; Arking, Dan E DE; Auvinen, Juha J; Liu, Chunyu C; Männikkö, Minna M; Risch, Lorenz L; Rotter, Jerome I JI; Snieder, Harold H; Veijola, Juha J; Blakemore, Alexandra I AI; Boehnke, Michael M; Campbell, Harry H; Conen, David D; Eriksson, Johan G JG; Grabe, Hans J HJ; Guo, Xiuqing X; van der Harst, Pim P; Hartman, Catharina A CA; Hayward, Caroline C; Heath, Andrew C AC; Jarvelin, Marjo-Riitta MR; Kähönen, Mika M; Kardia, Sharon L R SLR; Kühne, Michael M; Kuusisto, Johanna J; Laakso, Markku M; Lahti, Jari J; Lehtimäki, Terho T; McIntosh, Andrew M AM; Mohlke, Karen L KL; Morrison, Alanna C AC; Martin, Nicholas G NG; Oldehinkel, Albertine J AJ; Penninx, Brenda W J H BWJH; Psaty, Bruce M BM; Raitakari, Olli T OT; Rudan, Igor I; Samani, Nilesh J NJ; Scott, Laura J LJ; Spector, Tim D TD; Verweij, Niek N; Weir, David R DR; Wilson, James F JF; Levy, Daniel D; Tzoulaki, Ioanna I; Bell, Jimmy D JD; Matthews, Paul M PM; Rothenfluh, Adrian A; Desrivières, Sylvane S; Schumann, Gunter G; Elliott, Paul P
Publication Date: 2019-09

Variant appearance in text: rs1053651
PubMed Link: 31358974
Variant Present in the following documents:
  • Main text
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: TCAP: 453A>C
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: rs1053651
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs1053651
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_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: rs1053651
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.

Journal Of Lipid Research
Hebbar, Prashantha P; Nizam, Rasheeba R; Melhem, Motasem M; Alkayal, Fadi F; Elkum, Naser N; John, Sumi Elsa SE; Tuomilehto, Jaakko J; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-10

Variant appearance in text: rs1053651
PubMed Link: 30108155
Variant Present in the following documents:
  • Main text
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: N/A
PubMed Link: 29974678
Variant Present in the following documents:
View BVdb publication page



Lessons from ten years of genome-wide association studies of asthma.

Clinical & Translational Immunology
Vicente, Cristina T CT; Revez, Joana A JA; Ferreira, Manuel A R MAR
Publication Date: 2017-12

Variant appearance in text: rs1053651
PubMed Link: 29333270
Variant Present in the following documents:
  • Main text
  • cti201754a.pdf
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



Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One
Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2017

Variant appearance in text: rs1053651
PubMed Link: 28472130
Variant Present in the following documents:
  • pone.0176516.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: N/A
PubMed Link: 26549847
Variant Present in the following documents:
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



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



Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.

Plos One
Francis, Amirtharaj A; Sunitha, Balaraju B; Vinodh, Kandavalli K; Polavarapu, Kiran K; Katkam, Shiva Krishna SK; Modi, Sailesh S; Bharath, M M Srinivas MM; Gayathri, Narayanappa N; Nalini, Atchayaram A; Thangaraj, Kumarasamy K
Publication Date: 2014

Variant appearance in text: TCAP: 453A>C
PubMed Link: 25055047
Variant Present in the following documents:
  • Main text
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



Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.

Journal Of Clinical Bioinformatics
Stubbs, Andrew A; McClellan, Elizabeth A EA; Horsman, Sebastiaan S; Hiltemann, Saskia D SD; Palli, Ivo I; Nouwens, Stephan S; Koning, Anton Hj AH; Hoogland, Frits F; Reumers, Joke J; Heijsman, Daphne D; Swagemakers, Sigrid S; Kremer, Andreas A; Meijerink, Jules J; Lambrechts, Diether D; van der Spek, Peter J PJ
Publication Date: 2012-11-19

Variant appearance in text: rs1053651
PubMed Link: 23164068
Variant Present in the following documents:
  • Main text
  • 2043-9113-2-19.pdf
View BVdb publication page



Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Plos One
Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C
Publication Date: 2011

Variant appearance in text: TCAP: 453A>C; A151A; rs1053651
PubMed Link: 22194935
Variant Present in the following documents:
  • pone.0028872.s001.pdf
View BVdb publication page



Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.

Journal Of Biomolecular Techniques : Jbt
Dames, Shale S; Durtschi, Jacob J; Geiersbach, Katherine K; Stephens, Jack J; Voelkerding, Karl V KV
Publication Date: 2010-07

Variant appearance in text: rs1053651
PubMed Link: 20592870
Variant Present in the following documents:
  • Main text
View BVdb publication page



HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.

British Journal Of Cancer
Benusiglio, P R PR; Pharoah, P D PD; Smith, P L PL; Lesueur, F F; Conroy, D D; Luben, R N RN; Dew, G G; Jordan, C C; Dunning, A A; Easton, D F DF; Ponder, B A J BA
Publication Date: 2006-12-18

Variant appearance in text: rs1053651
PubMed Link: 17117180
Variant Present in the following documents:
  • Main text
  • 95-6603473a.pdf
View BVdb publication page