RFWD3 c.1690A>G ;(p.I564V)

Variant ID: 16-74664743-T-C

NM_018124.3(RFWD3):c.1690A>G;(p.I564V)

This variant was identified in 51 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: RFWD3: I564V
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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: RFWD3: 1690A>G; Ile564Val
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: RFWD3: I564V; rs7193541
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: RFWD3: 1690A>G; I564V; rs7193541
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
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: RFWD3: I564V
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



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: RFWD3: I564V; rs7193541
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.

Leukemia
Arniani, Silvia S; Pierini, Valentina V; Pellanera, Fabrizia F; Matteucci, Caterina C; Di Giacomo, Danika D; Bardelli, Valentina V; Quintini, Martina M; Mavridou, Elena E; Lema Fernandez, Anair Graciela AG; Nardelli, Carlotta C; Moretti, Martina M; Gorello, Paolo P; Crescenzi, Barbara B; Romoli, Silvia S; Beacci, Donatella D; Cerrano, Marco M; Fracchiolla, Nicola N; Sica, Simona S; Forghieri, Fabio F; Giglio, Fabio F; Dargenio, Michela M; Elia, Loredana L; La Starza, Roberta R; Mecucci, Cristina C
Publication Date: 2022-11

Variant appearance in text: RFWD3: I564V; rs7193541
PubMed Link: 35974102
Variant Present in the following documents:
  • 41375_2022_1671_MOESM2_ESM.xlsx, sheet 18
View BVdb publication page



Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.

Cell Genomics
Taub, Margaret A MA; Conomos, Matthew P MP; Keener, Rebecca R; Iyer, Kruthika R KR; Weinstock, Joshua S JS; Yanek, Lisa R LR; Lane, John J; Miller-Fleming, Tyne W TW; Brody, Jennifer A JA; Raffield, Laura M LM; McHugh, Caitlin P CP; Jain, Deepti D; Gogarten, Stephanie M SM; Laurie, Cecelia A CA; Keramati, Ali A; Arvanitis, Marios M; Smith, Albert V AV; Heavner, Benjamin B; Barwick, Lucas L; Becker, Lewis C LC; Bis, Joshua C JC; Blangero, John J; Bleecker, Eugene R ER; Burchard, Esteban G EG; Celedón, Juan C JC; Chang, Yen Pei C YPC; Custer, Brian B; Darbar, Dawood D; de Las Fuentes, Lisa L; DeMeo, Dawn L DL; Freedman, Barry I BI; Garrett, Melanie E ME; Gladwin, Mark T MT; Heckbert, Susan R SR; Hidalgo, Bertha A BA; Irvin, Marguerite R MR; Islam, Talat T; Johnson, W Craig WC; Kaab, Stefan S; Launer, Lenore L; Lee, Jiwon J; Liu, Simin S; Moscati, Arden A; North, Kari E KE; Peyser, Patricia A PA; Rafaels, Nicholas N; Seidman, Christine C; Weeks, Daniel E DE; Wen, Fayun F; Wheeler, Marsha M MM; Williams, L Keoki LK; Yang, Ivana V IV; Zhao, Wei W; Aslibekyan, Stella S; Auer, Paul L PL; Bowden, Donald W DW; Cade, Brian E BE; Chen, Zhanghua Z; Cho, Michael H MH; Cupples, L Adrienne LA; Curran, Joanne E JE; Daya, Michelle M; Deka, Ranjan R; Eng, Celeste C; Fingerlin, Tasha E TE; Guo, Xiuqing X; Hou, Lifang L; Hwang, Shih-Jen SJ; Johnsen, Jill M JM; Kenny, Eimear E EE; Levin, Albert M AM; Liu, Chunyu C; Minster, Ryan L RL; Naseri, Take T; Nouraie, Mehdi M; Reupena, Muagututi'a Sefuiva MS; Sabino, Ester C EC; Smith, Jennifer A JA; Smith, Nicholas L NL; Su, Jessica Lasky JL; Taylor, James G JG; Telen, Marilyn J MJ; Tiwari, Hemant K HK; Tracy, Russell P RP; White, Marquitta J MJ; Zhang, Yingze Y; Wiggins, Kerri L KL; Weiss, Scott T ST; Vasan, Ramachandran S RS; Taylor, Kent D KD; Sinner, Moritz F MF; Silverman, Edwin K EK; Shoemaker, M Benjamin MB; Sheu, Wayne H-H WH; Sciurba, Frank F; Schwartz, David A DA; Rotter, Jerome I JI; Roden, Daniel D; Redline, Susan S; Raby, Benjamin A BA; Psaty, Bruce M BM; Peralta, Juan M JM; Palmer, Nicholette D ND; Nekhai, Sergei S; Montgomery, Courtney G CG; Mitchell, Braxton D BD; Meyers, Deborah A DA; McGarvey, Stephen T ST; , ; Mak, Angel Cy AC; Loos, Ruth Jf RJ; Kumar, Rajesh R; Kooperberg, Charles C; Konkle, Barbara A BA; Kelly, Shannon S; Kardia, Sharon Lr SL; Kaplan, Robert R; He, Jiang J; Gui, Hongsheng H; Gilliland, Frank D FD; Gelb, Bruce D BD; Fornage, Myriam M; Ellinor, Patrick T PT; de Andrade, Mariza M; Correa, Adolfo A; Chen, Yii-Der Ida YI; Boerwinkle, Eric E; Barnes, Kathleen C KC; Ashley-Koch, Allison E AE; Arnett, Donna K DK; , ; , ; , ; Laurie, Cathy C CC; Abecasis, Goncalo G; Nickerson, Deborah A DA; Wilson, James G JG; Rich, Stephen S SS; Levy, Daniel D; Ruczinski, Ingo I; Aviv, Abraham A; Blackwell, Thomas W TW; Thornton, Timothy T; O'Connell, Jeff J; Cox, Nancy J NJ; Perry, James A JA; Armanios, Mary M; Battle, Alexis A; Pankratz, Nathan N; Reiner, Alexander P AP; Mathias, Rasika A RA
Publication Date: 2022-01-12

Variant appearance in text: rs7193541
PubMed Link: 35530816
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Genome-wide meta-analysis of monoclonal gammopathy of undetermined significance (MGUS) identifies risk loci impacting IRF-6.

Blood Cancer Journal
Clay-Gilmour, Alyssa A; Chattopadhyay, Subhayan S; Hildebrandt, Michelle A T MAT; Thomsen, Hauke H; Weinhold, Niels N; Vodicka, Pavel P; Vodickova, Ludmila L; Hoffmann, Per P; Nöthen, Markus M MM; Jöckel, Karl-Heinz KH; Schmidt, Börge B; Langer, Christian C; Hajek, Roman R; Hallmans, Göran G; Pettersson-Kymmer, Ulrika U; Ohlsson, Claes C; Späth, Florentin F; Houlston, Richard R; Goldschmidt, Hartmut H; Manasanch, Elisabet E EE; Norman, Aaron A; Kumar, Shaji S; Rajkumar, S Vincent SV; Slager, Susan S; Försti, Asta A; Vachon, Celine M CM; Hemminki, Kari K
Publication Date: 2022-04-13

Variant appearance in text: rs7193541
PubMed Link: 35418122
Variant Present in the following documents:
  • Main text
  • 41408_2022_Article_658.pdf
View BVdb publication page



Functional dissection of inherited non-coding variation influencing multiple myeloma risk.

Nature Communications
Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B
Publication Date: 2022-01-10

Variant appearance in text: rs7193541
PubMed Link: 35013207
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27666.pdf
  • 41467_2021_27666_MOESM1_ESM.pdf
View BVdb publication page



Functional dissection of inherited non-coding variation influencing multiple myeloma risk.

Nature Communications
Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B
Publication Date: 2022-01-10

Variant appearance in text: rs7193541
PubMed Link: 35013207
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27666.pdf
  • 41467_2021_27666_MOESM1_ESM.pdf
View BVdb publication page



A polygenic risk score for multiple myeloma risk prediction.

European Journal Of Human Genetics : Ejhg
Canzian, Federico F; Piredda, Chiara C; Macauda, Angelica A; Zawirska, Daria D; Andersen, Niels Frost NF; Nagler, Arnon A; Zaucha, Jan Maciej JM; Mazur, Grzegorz G; Dumontet, Charles C; Wątek, Marzena M; Jamroziak, Krzysztof K; Sainz, Juan J; Várkonyi, Judit J; Butrym, Aleksandra A; Beider, Katia K; Abildgaard, Niels N; Lesueur, Fabienne F; Dudziński, Marek M; Vangsted, Annette Juul AJ; Pelosini, Matteo M; Subocz, Edyta E; Petrini, Mario M; Buda, Gabriele G; Raźny, Małgorzata M; Gemignani, Federica F; Marques, Herlander H; Orciuolo, Enrico E; Kadar, Katalin K; Jurczyszyn, Artur A; Druzd-Sitek, Agnieszka A; Vogel, Ulla U; Andersen, Vibeke V; Reis, Rui Manuel RM; Suska, Anna A; Avet-Loiseau, Hervé H; Kruszewski, Marcin M; Tomczak, Waldemar W; Rymko, Marcin M; Minvielle, Stephane S; Campa, Daniele D
Publication Date: 2022-04

Variant appearance in text: rs7193541
PubMed Link: 34845334
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_986.pdf
View BVdb publication page



Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Publication Date: 2021-10

Variant appearance in text: rs7193541
PubMed Link: 34611362
Variant Present in the following documents:
  • 41588_2021_944_MOESM3_ESM.pdf
View BVdb publication page



Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Publication Date: 2021-10

Variant appearance in text: rs7193541
PubMed Link: 34611362
Variant Present in the following documents:
  • 41588_2021_944_MOESM3_ESM.pdf
View BVdb publication page



Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports
Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ
Publication Date: 2021-08-09

Variant appearance in text: RFWD3: I564V; rs7193541
PubMed Link: 34373545
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_95618.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: RFWD3: 1690A>G; I564V; rs7193541
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: RFWD3: 1690A>G; Ile564Val; rs7193541
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma.

Diagnostic Pathology
Hou, Ping P; Su, Xiaoyan X; Cao, Wei W; Xu, Liping L; Zhang, Rongguiyi R; Huang, Zhihao Z; Wang, Jiakun J; Li, Lixiang L; Wu, Linquan L; Liao, Wenjun W
Publication Date: 2021-04-08

Variant appearance in text: RFWD3: I564V
PubMed Link: 33832503
Variant Present in the following documents:
  • 13000_2021_Article_1086.pdf
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: RFWD3: Ile564Val; rs7193541
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: RFWD3: 1690A>G; I564V; rs7193541
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: rs7193541
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Coinherited genetics of multiple myeloma and its precursor, monoclonal gammopathy of undetermined significance.

Blood Advances
Clay-Gilmour, Alyssa I AI; Hildebrandt, Michelle A T MAT; Brown, Elizabeth E EE; Hofmann, Jonathan N JN; Spinelli, John J JJ; Giles, Graham G GG; Cozen, Wendy W; Bhatti, Parveen P; Wu, Xifeng X; Waller, Rosalie G RG; Belachew, Alem A AA; Robinson, Dennis P DP; Norman, Aaron D AD; Sinnwell, Jason P JP; Berndt, Sonja I SI; Rajkumar, S Vincent SV; Kumar, Shaji K SK; Chanock, Stephen J SJ; Machiela, Mitchell J MJ; Milne, Roger L RL; Slager, Susan L SL; Camp, Nicola J NJ; Ziv, Elad E; Vachon, Celine M CM
Publication Date: 2020-06-23

Variant appearance in text: rs7193541
PubMed Link: 32569378
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome Sequencing Analysis Identifies Rare Variants in ATM and RPL8 That Are Associated With Shorter Telomere Length.

Frontiers In Genetics
van der Spek, Ashley A; Warner, Sophie C SC; Broer, Linda L; Nelson, Christopher P CP; Vojinovic, Dina D; Ahmad, Shahzad S; Arp, Pascal P PP; Brouwer, Rutger W W RWW; Denniff, Matthew M; van den Hout, Mirjam C G N MCGN; van Rooij, Jeroen G J JGJ; Kraaij, Robert R; van IJcken, Wilfred F J WFJ; Samani, Nilesh J NJ; Ikram, M Arfan MA; Uitterlinden, André G AG; Codd, Veryan V; Amin, Najaf N; van Duijn, Cornelia M CM
Publication Date: 2020

Variant appearance in text: rs7193541
PubMed Link: 32425970
Variant Present in the following documents:
  • Main text
  • fgene-11-00337.pdf
View BVdb publication page



Cross-Cancer Pleiotropic Analysis Reveals Novel Susceptibility Loci for Lung Cancer.

Frontiers In Oncology
Wang, Lijuan L; Zhu, Meng M; Wang, Yuzhuo Y; Fan, Jingyi J; Sun, Qi Q; Ji, Mengmeng M; Fan, Xikang X; Xie, Junxing J; Dai, Juncheng J; Jin, Guangfu G; Hu, Zhibin Z; Ma, Hongxia H; Shen, Hongbing H
Publication Date: 2019

Variant appearance in text: rs7193541
PubMed Link: 32010612
Variant Present in the following documents:
  • Main text
  • fonc-09-01492.pdf
View BVdb publication page



A meta-analysis of genome-wide association studies of multiple myeloma among men and women of African ancestry.

Blood Advances
Du, Zhaohui Z; Weinhold, Niels N; Song, Gregory Chi GC; Rand, Kristin A KA; Van Den Berg, David J DJ; Hwang, Amie E AE; Sheng, Xin X; Hom, Victor V; Ailawadhi, Sikander S; Nooka, Ajay K AK; Singhal, Seema S; Pawlish, Karen K; Peters, Edward S ES; Bock, Cathryn C; Mohrbacher, Ann A; Stram, Alexander A; Berndt, Sonja I SI; Blot, William J WJ; Casey, Graham G; Stevens, Victoria L VL; Kittles, Rick R; Goodman, Phyllis J PJ; Diver, W Ryan WR; Hennis, Anselm A; Nemesure, Barbara B; Klein, Eric A EA; Rybicki, Benjamin A BA; Stanford, Janet L JL; Witte, John S JS; Signorello, Lisa L; John, Esther M EM; Bernstein, Leslie L; Stroup, Antoinette M AM; Stephens, Owen W OW; Zangari, Maurizio M; Van Rhee, Frits F; Olshan, Andrew A; Zheng, Wei W; Hu, Jennifer J JJ; Ziegler, Regina R; Nyante, Sarah J SJ; Ingles, Sue Ann SA; Press, Michael F MF; Carpten, John David JD; Chanock, Stephen J SJ; Mehta, Jayesh J; Colditz, Graham A GA; Wolf, Jeffrey J; Martin, Thomas G TG; Tomasson, Michael M; Fiala, Mark A MA; Terebelo, Howard H; Janakiraman, Nalini N; Kolonel, Laurence L; Anderson, Kenneth C KC; Le Marchand, Loic L; Auclair, Daniel D; Chiu, Brian C-H BC; Ziv, Elad E; Stram, Daniel D; Vij, Ravi R; Bernal-Mizrachi, Leon L; Morgan, Gareth J GJ; Zonder, Jeffrey A JA; Huff, Carol Ann CA; Lonial, Sagar S; Orlowski, Robert Z RZ; Conti, David V DV; Haiman, Christopher A CA; Cozen, Wendy W
Publication Date: 2020-01-14

Variant appearance in text: rs7193541
PubMed Link: 31935283
Variant Present in the following documents:
  • Main text
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: RFWD3: 1690A>G; Ile564Val
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
  • Supplementary_Data2.xlsx, sheet 2
  • Supplementary_Data2.xlsx, sheet 3
  • Supplementary_Data2.xlsx, sheet 4
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: RFWD3: I564V; rs7193541
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes.

Human Genomics
Went, Molly M; Kinnersley, Ben B; Sud, Amit A; Johnson, David C DC; Weinhold, Niels N; Försti, Asta A; van Duin, Mark M; Orlando, Giulia G; Mitchell, Jonathan S JS; Kuiper, Rowan R; Walker, Brian A BA; Gregory, Walter M WM; Hoffmann, Per P; Jackson, Graham H GH; Nöthen, Markus M MM; da Silva Filho, Miguel Inacio MI; Thomsen, Hauke H; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Hansson, Markus M; Kaiser, Martin M; Sonneveld, Pieter P; Goldschmidt, Hartmut H; Stefansson, Kari K; Hemminki, Kari K; Nilsson, Björn B; Morgan, Gareth J GJ; Houlston, Richard S RS
Publication Date: 2019-08-20

Variant appearance in text: rs7193541
PubMed Link: 31429796
Variant Present in the following documents:
  • Main text
  • 40246_2019_Article_231.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: RFWD3: I564V; rs7193541
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
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: rs7193541
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Characteristic gene alterations in primary gastrointestinal T- and NK-cell lymphomas.

Leukemia
Lee, Gunho G; Ryu, Hyang Joo HJ; Choi, Ji Woon JW; Kang, Hyundeok H; Yang, Woo Ick WI; Yang, In Seok IS; Seo, Mi-Kyoung MK; Kim, Sangwoo S; Yoon, Sun Och SO
Publication Date: 2019-07

Variant appearance in text: rs7193541
PubMed Link: 30675012
Variant Present in the following documents:
  • 41375_2018_Article_309.pdf
View BVdb publication page



Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology.

Blood Cancer Journal
Went, Molly M; Sud, Amit A; Speedy, Helen H; Sunter, Nicola J NJ; Försti, Asta A; Law, Philip J PJ; Johnson, David C DC; Mirabella, Fabio F; Holroyd, Amy A; Li, Ni N; Orlando, Giulia G; Weinhold, Niels N; van Duin, Mark M; Chen, Bowang B; Mitchell, Jonathan S JS; Mansouri, Larry L; Juliusson, Gunnar G; Smedby, Karin E KE; Jayne, Sandrine S; Majid, Aneela A; Dearden, Claire C; Allsup, David J DJ; Bailey, James R JR; Pratt, Guy G; Pepper, Chris C; Fegan, Chris C; Rosenquist, Richard R; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Einsele, Hermann H; Gregory, Walter M WM; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Jöckel, Karl-Heinz KH; Nickel, Jolanta J; Nöthen, Markus M MM; da Silva Filho, Miguel Inacio MI; Thomsen, Hauke H; Walker, Brian A BA; Broyl, Annemiek A; Davies, Faith E FE; Hansson, Markus M; Goldschmidt, Hartmut H; Dyer, Martin J S MJS; Kaiser, Martin M; Sonneveld, Pieter P; Morgan, Gareth J GJ; Hemminki, Kari K; Nilsson, Björn B; Catovsky, Daniel D; Allan, James M JM; Houlston, Richard S RS
Publication Date: 2018-12-21

Variant appearance in text: rs7193541
PubMed Link: 30602759
Variant Present in the following documents:
  • Main text
  • 41408_2018_Article_162.pdf
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: RFWD3: I564V; rs7193541
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: RFWD3: I564V; rs7193541
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: RFWD3: 1690A>G; Ile564Val; rs7193541
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.

Nature Communications
Went, Molly M; Sud, Amit A; Försti, Asta A; Halvarsson, Britt-Marie BM; Weinhold, Niels N; Kimber, Scott S; van Duin, Mark M; Thorleifsson, Gudmar G; Holroyd, Amy A; Johnson, David C DC; Li, Ni N; Orlando, Giulia G; Law, Philip J PJ; Ali, Mina M; Chen, Bowang B; Mitchell, Jonathan S JS; Gudbjartsson, Daniel F DF; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Campo, Chiara C; Bandapalli, Obul R OR; Einsele, Hermann H; Gregory, Walter A WA; Gullberg, Urban U; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Jöckel, Karl-Heinz KH; Johnsson, Ellinor E; Kristinsson, Sigurður Y SY; Mellqvist, Ulf-Henrik UH; Nahi, Hareth H; Easton, Douglas D; Pharoah, Paul P; Dunning, Alison A; Peto, Julian J; Canzian, Federico F; Swerdlow, Anthony A; Eeles, Rosalind A RA; Kote-Jarai, ZSofia Z; Muir, Kenneth K; Pashayan, Nora N; Nickel, Jolanta J; Nöthen, Markus M MM; Rafnar, Thorunn T; Ross, Fiona M FM; da Silva Filho, Miguel Inacio MI; Thomsen, Hauke H; Turesson, Ingemar I; Vangsted, Annette A; Andersen, Niels Frost NF; Waage, Anders A; Walker, Brian A BA; Wihlborg, Anna-Karin AK; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Langer, Christian C; Hansson, Markus M; Goldschmidt, Hartmut H; Kaiser, Martin M; Sonneveld, Pieter P; Stefansson, Kari K; Morgan, Gareth J GJ; Hemminki, Kari K; Nilsson, Björn B; Houlston, Richard S RS; ,
Publication Date: 2018-09-13

Variant appearance in text: rs7193541
PubMed Link: 30213928
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4989.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: RFWD3: I564V; rs7193541
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



Search for rare protein altering variants influencing susceptibility to multiple myeloma.

Oncotarget
Scales, Matthew M; Chubb, Daniel D; Dobbins, Sara E SE; Johnson, David C DC; Li, Ni N; Sternberg, Michael J MJ; Weinhold, Neils N; Stein, Caleb C; Jackson, Graham G; Davies, Faith E FE; Walker, Brian A BA; Wardell, Christopher P CP; Houlston, Richard S RS; Morgan, Gareth J GJ
Publication Date: 2017-05-30

Variant appearance in text: rs7193541
PubMed Link: 28404951
Variant Present in the following documents:
  • Main text
  • oncotarget-08-36203.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: RFWD3: I564V; rs7193541
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.

Nature Communications
Mitchell, Jonathan S JS; Li, Ni N; Weinhold, Niels N; Försti, Asta A; Ali, Mina M; van Duin, Mark M; Thorleifsson, Gudmar G; Johnson, David C DC; Chen, Bowang B; Halvarsson, Britt-Marie BM; Gudbjartsson, Daniel F DF; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Campo, Chiara C; Einsele, Hermann H; Gregory, Walter A WA; Gullberg, Urban U; Henrion, Marc M; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Johnsson, Ellinor E; Jöud, Magnus M; Kristinsson, Sigurður Y SY; Lenhoff, Stig S; Lenive, Oleg O; Mellqvist, Ulf-Henrik UH; Migliorini, Gabriele G; Nahi, Hareth H; Nelander, Sven S; Nickel, Jolanta J; Nöthen, Markus M MM; Rafnar, Thorunn T; Ross, Fiona M FM; da Silva Filho, Miguel Inacio MI; Swaminathan, Bhairavi B; Thomsen, Hauke H; Turesson, Ingemar I; Vangsted, Annette A; Vogel, Ulla U; Waage, Anders A; Walker, Brian A BA; Wihlborg, Anna-Karin AK; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Langer, Christian C; Hansson, Markus M; Kaiser, Martin M; Sonneveld, Pieter P; Stefansson, Kari K; Morgan, Gareth J GJ; Goldschmidt, Hartmut H; Hemminki, Kari K; Nilsson, Björn B; Houlston, Richard S RS
Publication Date: 2016-07-01

Variant appearance in text: RFWD3: I564V; rs7193541
PubMed Link: 27363682
Variant Present in the following documents:
  • Main text
  • ncomms12050.pdf
  • ncomms12050-s1.pdf
View BVdb publication page



Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics
Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T
Publication Date: 2016-01-07

Variant appearance in text: RFWD3: I564V; rs7193541
PubMed Link: 26744305
Variant Present in the following documents:
  • 40246_2015_58_MOESM5_ESM.xlsx, sheet 2
  • 40246_2015_58_MOESM5_ESM.xlsx, sheet 3
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: rs7193541
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: RFWD3: I564V; rs7193541
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



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: RFWD3: I564V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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: RFWD3: I564V
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: RFWD3: I564V; rs7193541
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page