F8 c.3780C>G ;(p.D1260E)

Variant ID: X-154158285-G-C

NM_000132.3(F8):c.3780C>G;(p.D1260E)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: F8: D1260E
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



BAY 81-8973 Efficacy and Safety in Previously Untreated and Minimally Treated Children with Severe Hemophilia A: The LEOPOLD Kids Trial.

Thrombosis And Haemostasis
Ljung, Rolf R; Chan, Anthony K C AKC; Glosli, Heidi H; Afonja, Olubunmi O; Becker, Bastian B; Tseneklidou-Stoeter, Despina D; Mancuso, Maria Elisa ME; Saulyte-Trakymiene, Sonata S; Kenet, Gili G
Publication Date: 2023-01

Variant appearance in text: FVIII: 3780C>G
PubMed Link: 36626898
Variant Present in the following documents:
  • 10-1055-s-0042-1757876-s22030113.pdf
View BVdb publication page



Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs1800291
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: N/A
PubMed Link: 35768426
Variant Present in the following documents:
View BVdb publication page



Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: F8: D1260E
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine
Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N
Publication Date: 2021-07-16

Variant appearance in text: F8: 3780C>G; Asp1260Glu; rs1800291
PubMed Link: 34272389
Variant Present in the following documents:
  • 41525_2021_228_MOESM1_ESM.pdf
View BVdb publication page



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

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

Variant appearance in text: F8: 3780C>G; D1260E; rs1800291
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.

Molecular Genetics & Genomic Medicine
Mosaad, Rehab M RM; Amr, Khalda S KS; Rabie, Eman A EA; Mostafa, Naglaa O NO; Habib, Sonia A SA; El-Kamah, Ghada Y GY
Publication Date: 2021-02

Variant appearance in text: F8: 3780C>G; rs1800291
PubMed Link: 33342086
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1575.pdf
View BVdb publication page



Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.

Research And Practice In Thrombosis And Haemostasis
Manderstedt, Eric E; Nilsson, Rosanna R; Ljung, Rolf R; Lind-Halldén, Christina C; Astermark, Jan J; Halldén, Christer C
Publication Date: 2020-10

Variant appearance in text: rs1800291
PubMed Link: 33134778
Variant Present in the following documents:
  • Main text
  • RTH2-4-1121.pdf
View BVdb publication page



Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.

Journal Of Thrombosis And Haemostasis : Jth
Raffield, Laura M LM; Lu, Ake T AT; Szeto, Mindy D MD; Little, Amarise A; Grinde, Kelsey E KE; Shaw, Jessica J; Auer, Paul L PL; Cushman, Mary M; Horvath, Steve S; Irvin, Marguerite R MR; Lange, Ethan M EM; Lange, Leslie A LA; Nickerson, Deborah A DA; Thornton, Timothy A TA; Wilson, James G JG; Wheeler, Marsha M MM; , ; Zakai, Neil A NA; Reiner, Alex P AP
Publication Date: 2020-06

Variant appearance in text: rs1800291
PubMed Link: 31985870
Variant Present in the following documents:
  • Main text
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



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: F8: 3780C>G
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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: N/A
PubMed Link: 30894629
Variant Present in the following documents:
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: F8: 3780C>G; rs1800291
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

Npj Genomic Medicine
Owaidah, Tarek T; Saleh, Mahasen M; Baz, Batoul B; Abdulaziz, Basma B; Alzahrani, Hazza H; Tarawah, Ahmed A; Almusa, Abdulrahman A; AlNounou, Randa R; AbaAlkhail, Hala H; Al-Numair, Nouf N; Altahan, Rahaf R; Abouelhoda, Mohammed M; Alamoudi, Thamer T; Monies, Dorota D; Jabaan, Amjad A; Al Tassan, Nada N
Publication Date: 2019

Variant appearance in text: F8: 3780C>G; D1260E
PubMed Link: 30792900
Variant Present in the following documents:
  • Main text
  • 41525_2019_Article_79.pdf
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: N/A
PubMed Link: 30784590
Variant Present in the following documents:
View BVdb publication page



Identification of a novel mutation in the factor VIII gene causing severe haemophilia A.

Bmc Hematology
Nissen, S K SK; Laursen, A L AL; Poulsen, L H LH; Mogensen, T H TH
Publication Date: 2018

Variant appearance in text: F8: 3780C>G
PubMed Link: 30083353
Variant Present in the following documents:
  • Main text
  • 12878_2018_Article_113.pdf
View BVdb publication page



[Analysis of factor Ⅷ gene mutations in a family with hemophilia A].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Li, D L DL; Li, B L BL; Zhao, Z D ZD; Cao, W W
Publication Date: 2016-08-14

Variant appearance in text: FVIII: 3780C>G
PubMed Link: 27587255
Variant Present in the following documents:
  • cjh-37-08-705.pdf
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: N/A
PubMed Link: 27512948
Variant Present in the following documents:
View BVdb publication page



Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Publication Date: 2016-06-23

Variant appearance in text: F8: D1260E
PubMed Link: 27334989
Variant Present in the following documents:
  • 13058_2016_727_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

Human Molecular Genetics
Hinds, David A DA; Buil, Alfonso A; Ziemek, Daniel D; Martinez-Perez, Angel A; Malik, Rainer R; Folkersen, Lasse L; Germain, Marine M; Mälarstig, Anders A; Brown, Andrew A; Soria, Jose Manuel JM; Dichgans, Martin M; Bing, Nan N; Franco-Cereceda, Anders A; Souto, Juan Carlos JC; Dermitzakis, Emmanouil T ET; Hamsten, Anders A; Worrall, Bradford B BB; Tung, Joyce Y JY; , ; Sabater-Lleal, Maria M
Publication Date: 2016-05-01

Variant appearance in text: rs1800291
PubMed Link: 26908601
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 26659599
Variant Present in the following documents:
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: N/A
PubMed Link: 26206375
Variant Present in the following documents:
View BVdb publication page



Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.

Blood
Huffman, Jennifer E JE; de Vries, Paul S PS; Morrison, Alanna C AC; Sabater-Lleal, Maria M; Kacprowski, Tim T; Auer, Paul L PL; Brody, Jennifer A JA; Chasman, Daniel I DI; Chen, Ming-Huei MH; Guo, Xiuqing X; Lin, Li-An LA; Marioni, Riccardo E RE; Müller-Nurasyid, Martina M; Yanek, Lisa R LR; Pankratz, Nathan N; Grove, Megan L ML; de Maat, Moniek P M MP; Cushman, Mary M; Wiggins, Kerri L KL; Qi, Lihong L; Sennblad, Bengt B; Harris, Sarah E SE; Polasek, Ozren O; Riess, Helene H; Rivadeneira, Fernando F; Rose, Lynda M LM; Goel, Anuj A; Taylor, Kent D KD; Teumer, Alexander A; Uitterlinden, André G AG; Vaidya, Dhananjay D; Yao, Jie J; Tang, Weihong W; Levy, Daniel D; Waldenberger, Melanie M; Becker, Diane M DM; Folsom, Aaron R AR; Giulianini, Franco F; Greinacher, Andreas A; Hofman, Albert A; Huang, Chiang-Ching CC; Kooperberg, Charles C; Silveira, Angela A; Starr, John M JM; Strauch, Konstantin K; Strawbridge, Rona J RJ; Wright, Alan F AF; McKnight, Barbara B; Franco, Oscar H OH; Zakai, Neil N; Mathias, Rasika A RA; Psaty, Bruce M BM; Ridker, Paul M PM; Tofler, Geoffrey H GH; Völker, Uwe U; Watkins, Hugh H; Fornage, Myriam M; Hamsten, Anders A; Deary, Ian J IJ; Boerwinkle, Eric E; Koenig, Wolfgang W; Rotter, Jerome I JI; Hayward, Caroline C; Dehghan, Abbas A; Reiner, Alex P AP; O'Donnell, Christopher J CJ; Smith, Nicholas L NL
Publication Date: 2015-09-10

Variant appearance in text: N/A
PubMed Link: 26105150
Variant Present in the following documents:
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: F8: D1260E; rs1800291
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 2
  • pone.0123569.s008.xls, sheet 9
  • pone.0123569.s008.xls, sheet 8
  • pone.0123569.s008.xls, sheet 1
  • pone.0123569.s008.xls, sheet 11
  • pone.0123569.s008.xls, sheet 3
  • pone.0123569.s008.xls, sheet 5
  • pone.0123569.s008.xls, sheet 6
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: N/A
PubMed Link: 25855536
Variant Present in the following documents:
View BVdb publication page



Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.

American Journal Of Hematology
Tang, Weihong W; Cushman, Mary M; Green, David D; Rich, Stephen S SS; Lange, Leslie A LA; Yang, Qiong Q; Tracy, Russell P RP; Tofler, Geoffrey H GH; Basu, Saonli S; Wilson, James G JG; Keating, Brendan J BJ; Weng, Lu-Chen LC; Taylor, Herman A HA; Jacobs, David R DR; Delaney, Joseph A JA; Palmer, Cameron D CD; Young, Taylor T; Pankow, James S JS; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Reiner, Alexander P AP; Folsom, Aaron R AR
Publication Date: 2015-06

Variant appearance in text: rs1800291
PubMed Link: 25779970
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 25496518
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



Long-term treatment course of a patient with mild haemophilia A who developed a high titre factor VIII inhibitor.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Iioka, F F; Shimomura, D D; Nakamura, F F; Ohno, H H; Yada, K K; Nogami, K K; Shima, M M
Publication Date: 2014-11

Variant appearance in text: F8: 3780C>G
PubMed Link: 25354772
Variant Present in the following documents:
  • Main text
  • hae0020-e402.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25032700
Variant Present in the following documents:
View BVdb publication page



TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One
Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y
Publication Date: 2014

Variant appearance in text: rs1800291
PubMed Link: 24637876
Variant Present in the following documents:
  • pone.0091598.s007.pdf
View BVdb publication page



Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.

Blood Research
Seo, Ja Young JY; Jang, Mi-Ae MA; Kim, Hee-Jung HJ; Lee, Ki-O KO; Kim, Sun-Hee SH; Kim, Hee-Jin HJ
Publication Date: 2013-09

Variant appearance in text: F8: 3780C>G; rs1800291
PubMed Link: 24086941
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

Plos Genetics
Naj, Adam C AC; Beecham, Gary W GW; Martin, Eden R ER; Gallins, Paul J PJ; Powell, Eric H EH; Konidari, Ioanna I; Whitehead, Patrice L PL; Cai, Guiqing G; Haroutunian, Vahram V; Scott, William K WK; Vance, Jeffery M JM; Slifer, Michael A MA; Gwirtsman, Harry E HE; Gilbert, John R JR; Haines, Jonathan L JL; Buxbaum, Joseph D JD; Pericak-Vance, Margaret A MA
Publication Date: 2010-09-23

Variant appearance in text: rs1800291
PubMed Link: 20885792
Variant Present in the following documents:
View BVdb publication page



Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study.

Journal Of Thrombosis And Haemostasis : Jth
Reiner, A P AP; Lange, L A LA; Smith, N L NL; Zakai, N A NA; Cushman, M M; Folsom, A R AR
Publication Date: 2009-09

Variant appearance in text: rs1800291
PubMed Link: 19552680
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics
Smith, Jennifer A JA; Turner, Stephen T ST; Sun, Yan V YV; Fornage, Myriam M; Kelly, Reagan J RJ; Mosley, Thomas H TH; Jack, Clifford R CR; Kullo, Iftikhar J IJ; Kardia, Sharon L R SL
Publication Date: 2009-04-07

Variant appearance in text: rs1800291
PubMed Link: 19351393
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

Plos Genetics
Serre, David D; Gurd, Scott S; Ge, Bing B; Sladek, Robert R; Sinnett, Donna D; Harmsen, Eef E; Bibikova, Marina M; Chudin, Eugene E; Barker, David L DL; Dickinson, Todd T; Fan, Jian-Bing JB; Hudson, Thomas J TJ
Publication Date: 2008-02-29

Variant appearance in text: rs1800291
PubMed Link: 18454203
Variant Present in the following documents:
  • Main text
  • pgen.1000006.pdf
View BVdb publication page



A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.

Blood
Viel, Kevin R KR; Machiah, Deepa K DK; Warren, Diane M DM; Khachidze, Manana M; Buil, Alfonso A; Fernstrom, Karl K; Souto, Juan C JC; Peralta, Juan M JM; Smith, Todd T; Blangero, John J; Porter, Sandra S; Warren, Stephen T ST; Fontcuberta, Jordi J; Soria, Jose M JM; Flanders, W Dana WD; Almasy, Laura L; Howard, Tom E TE
Publication Date: 2007-05-01

Variant appearance in text: rs1800291
PubMed Link: 17209060
Variant Present in the following documents:
  • Main text
View BVdb publication page