HBB c.364G>C ;(p.E122Q)

Variant ID: 11-5246908-C-G

NM_000518.4(HBB):c.364G>C;(p.E122Q)

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies.

Elife
Tamana, Stella S; Xenophontos, Maria M; Minaidou, Anna A; Stephanou, Coralea C; Harteveld, Cornelis L CL; Bento, Celeste C; Traeger-Synodinos, Joanne J; Fylaktou, Irene I; Yasin, Norafiza Mohd NM; Abdul Hamid, Faidatul Syazlin FS; Esa, Ezalia E; Halim-Fikri, Hashim H; Zilfalil, Bin Alwi BA; Kakouri, Andrea C AC; , ; Kleanthous, Marina M; Kountouris, Petros P
Publication Date: 2022-12-01

Variant appearance in text: HBB: 364G>C; E122Q
PubMed Link: 36453528
Variant Present in the following documents:
  • elife-79713-supp2.xlsx, sheet 14
  • elife-79713-supp2.xlsx, sheet 6
  • elife-79713-supp2.xlsx, sheet 3
  • elife-79713-supp2.xlsx, sheet 1
View BVdb publication page



Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.

Frontiers In Genetics
Luo, Haiyan H; Huang, Ting T; Lu, Qing Q; Zhang, Liuyang L; Xu, Yonghua Y; Yang, Yan Y; Guo, Zhen Z; Yuan, Huizhen H; Shen, Yinqin Y; Huang, Shuhui S; Yang, Bicheng B; Zou, Yongyi Y; Liu, Yanqiu Y
Publication Date: 2022

Variant appearance in text: HBB: 364G>C; Glu122Gln
PubMed Link: 36246595
Variant Present in the following documents:
  • Main text
  • fgene-13-992073.pdf
View BVdb publication page



Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis.

American Journal Of Human Genetics
Sorokin, Elena P EP; Basty, Nicolas N; Whitcher, Brandon B; Liu, Yi Y; Bell, Jimmy D JD; Cohen, Robert L RL; Cule, Madeleine M; Thomas, E Louise EL
Publication Date: 2022-06-02

Variant appearance in text: rs33946267
PubMed Link: 35568031
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: HBB: 364G>C
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: HBB: E122Q
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/β+-thalassemia traits in an immigrant Afghan family.

Journal Of Clinical Pathology
Huits, Ralph R; Feyens, Anne-Marie AM; Lonneville, Niels N; Peyrassol, Xavier X; Adam, Anne-Sophie AS; Gulbis, Beatrice B; Van Esbroeck, Marjan M
Publication Date: 2022-12

Variant appearance in text: HBB: 364G>C; Glu122Gln
PubMed Link: 35039448
Variant Present in the following documents:
  • Main text
  • jclinpath-2021-208009.pdf
View BVdb publication page



Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease.

International Journal Of Neonatal Screening
Martella, Maddalena M; Viola, Giampietro G; Azzena, Silvia S; Schiavon, Sara S; Biondi, Andrea A; Basso, Giuseppe G; Corti, Paola P; Colombatti, Raffaella R; Masera, Nicoletta N; Sainati, Laura L
Publication Date: 2019-03

Variant appearance in text: HBB: 364G>C
PubMed Link: 33072962
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Polygenic and Monogenic Basis of Blood Traits and Diseases.

Cell
Vuckovic, Dragana D; Bao, Erik L EL; Akbari, Parsa P; Lareau, Caleb A CA; Mousas, Abdou A; Jiang, Tao T; Chen, Ming-Huei MH; Raffield, Laura M LM; Tardaguila, Manuel M; Huffman, Jennifer E JE; Ritchie, Scott C SC; Megy, Karyn K; Ponstingl, Hannes H; Penkett, Christopher J CJ; Albers, Patrick K PK; Wigdor, Emilie M EM; Sakaue, Saori S; Moscati, Arden A; Manansala, Regina R; Lo, Ken Sin KS; Qian, Huijun H; Akiyama, Masato M; Bartz, Traci M TM; Ben-Shlomo, Yoav Y; Beswick, Andrew A; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Brody, Jennifer A JA; van Rooij, Frank J A FJA; Chitrala, Kumaraswamy N KN; Wilson, Peter W F PWF; Choquet, Hélène H; Danesh, John J; Di Angelantonio, Emanuele E; Dimou, Niki N; Ding, Jingzhong J; Elliott, Paul P; Esko, Tõnu T; Evans, Michele K MK; Felix, Stephan B SB; Floyd, James S JS; Broer, Linda L; Grarup, Niels N; Guo, Michael H MH; Guo, Qi Q; Greinacher, Andreas A; Haessler, Jeff J; Hansen, Torben T; Howson, Joanna M M JMM; Huang, Wei W; Jorgenson, Eric E; Kacprowski, Tim T; Kähönen, Mika M; Kamatani, Yoichiro Y; Kanai, Masahiro M; Karthikeyan, Savita S; Koskeridis, Fotios F; Lange, Leslie A LA; Lehtimäki, Terho T; Linneberg, Allan A; Liu, Yongmei Y; Lyytikäinen, Leo-Pekka LP; Manichaikul, Ani A; Matsuda, Koichi K; Mohlke, Karen L KL; Mononen, Nina N; Murakami, Yoshinori Y; Nadkarni, Girish N GN; Nikus, Kjell K; Pankratz, Nathan N; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Raitakari, Olli T OT; Rich, Stephen S SS; Rodriguez, Benjamin A T BAT; Rosen, Jonathan D JD; Rotter, Jerome I JI; Schubert, Petra P; Spracklen, Cassandra N CN; Surendran, Praveen P; Tang, Hua H; Tardif, Jean-Claude JC; Ghanbari, Mohsen M; Völker, Uwe U; Völzke, Henry H; Watkins, Nicholas A NA; Weiss, Stefan S; , ; Cai, Na N; Kundu, Kousik K; Watt, Stephen B SB; Walter, Klaudia K; Zonderman, Alan B AB; Cho, Kelly K; Li, Yun Y; Loos, Ruth J F RJF; Knight, Julian C JC; Georges, Michel M; Stegle, Oliver O; Evangelou, Evangelos E; Okada, Yukinori Y; Roberts, David J DJ; Inouye, Michael M; Johnson, Andrew D AD; Auer, Paul L PL; Astle, William J WJ; Reiner, Alexander P AP; Butterworth, Adam S AS; Ouwehand, Willem H WH; Lettre, Guillaume G; Sankaran, Vijay G VG; Soranzo, Nicole N
Publication Date: 2020-09-03

Variant appearance in text: HBB: Glu122Gln; rs33946267
PubMed Link: 32888494
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Kaseniit, Kristjan E KE; Haque, Imran S IS; Goldberg, James D JD; Shulman, Lee P LP; Muzzey, Dale D
Publication Date: 2020-10

Variant appearance in text: HBB: 364G>C; E122Q
PubMed Link: 32595206
Variant Present in the following documents:
  • 41436_2020_869_MOESM2_ESM.xlsx, sheet 16
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: rs33946267
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: HBB: 364G>C; rs33946267
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.

Scientific Reports
Zhang, Jie J; Li, Peng P; Yang, Yang Y; Yan, Yuanlong Y; Zeng, Xiaohong X; Li, Dongmei D; Chen, Hong H; Su, Jie J; Zhu, Baosheng B
Publication Date: 2019-06-04

Variant appearance in text: HBB: 364G>C
PubMed Link: 31164695
Variant Present in the following documents:
  • 41598_2019_Article_44793.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: HBB: E122Q
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Prevalence of β-Thalassemia Mutations among Northeastern Iranian Population and their Impacts on Hematological Indices and Application of Prenatal Diagnosis, a Seven-Years Study.

Mediterranean Journal Of Hematology And Infectious Diseases
Jaripour, Mohammad Ehsan ME; Hayatigolkhatmi, Kourosh K; Iranmanesh, Vahid V; Zand, Farhad Khadivi FK; Badiei, Zahra Z; Farhangi, Hamid H; Ghasemi, Ali A; Banihashem, Abdollah A; Esfehani, Reza Jafarzadeh RJ; Sadr-Nabavi, Ariane A
Publication Date: 2018

Variant appearance in text: HBB: 364G>C
PubMed Link: 30002798
Variant Present in the following documents:
  • Main text
  • mjhid-10-1-e2018042.pdf
View BVdb publication page



A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.

Saudi Medical Journal
Alaithan, Mousa A MA; AbdulAzeez, Sayed S; Borgio, J Francis JF
Publication Date: 2018-04

Variant appearance in text: HBB: 364G>C
PubMed Link: 29619482
Variant Present in the following documents:
  • SaudiMedJ-39-329.pdf
View BVdb publication page



PECAN: library-free peptide detection for data-independent acquisition tandem mass spectrometry data.

Nature Methods
Ting, Ying S YS; Egertson, Jarrett D JD; Bollinger, James G JG; Searle, Brian C BC; Payne, Samuel H SH; Noble, William Stafford WS; MacCoss, Michael J MJ
Publication Date: 2017-09

Variant appearance in text: rs33946267
PubMed Link: 28783153
Variant Present in the following documents:
  • NIHMS893716-supplement-2.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: HBB: 364G>C; Glu122Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Investigation of mutations in the HBB gene using the 1,000 genomes database.

Plos One
Carlice-Dos-Reis, Tânia T; Viana, Jaime J; Moreira, Fabiano Cordeiro FC; Cardoso, Greice de Lemos GL; Guerreiro, João J; Santos, Sidney S; Ribeiro-Dos-Santos, Ândrea Â
Publication Date: 2017

Variant appearance in text: HBB: Glu122Gln; rs33946267
PubMed Link: 28379995
Variant Present in the following documents:
  • Main text
  • pone.0174637.pdf
View BVdb publication page



Inflammation in Sickle Cell Disease: Differential and Down-Expressed Plasma Levels of Annexin A1 Protein.

Plos One
Torres, Lidiane S LS; Okumura, Jéssika V JV; Silva, Danilo G H DG; Mimura, Kallyne K O KK; Belini-Júnior, Édis É; Oliveira, Renan G RG; Lobo, Clarisse L C CL; Oliani, Sonia M SM; Bonini-Domingos, Claudia R CR
Publication Date: 2016

Variant appearance in text: HBB: 364G>C
PubMed Link: 27802331
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).

Bmc Medical Genetics
Turner, Andrew A; Sasse, Jurgen J; Varadi, Aniko A
Publication Date: 2016-10-19

Variant appearance in text: HBB: 364G>C
PubMed Link: 27756326
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical, hematological and genetic data of a cohort of children with hemoglobin SD.

Revista Brasileira De Hematologia E Hemoterapia
Rezende, Paulo do Val Pdo V; Costa, Kenia da Silva Kda S; Domingues Junior, Jose Carlos JC; Silveira, Paula Barezani PB; Belisário, André Rolim AR; Silva, Celia Maria CM; Viana, Marcos Borato MB
Publication Date: 2016

Variant appearance in text: HBB: 364G>C
PubMed Link: 27521862
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comments on: "Clinical, hematological and genetic data of a cohort of children with hemoglobin SD".

Revista Brasileira De Hematologia E Hemoterapia
Figueiredo, Maria Stella MS
Publication Date: 2016

Variant appearance in text: HBB: 364G>C
PubMed Link: 27521855
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Nature Communications
Ferrari, Anthony A; Vincent-Salomon, Anne A; Pivot, Xavier X; Sertier, Anne-Sophie AS; Thomas, Emilie E; Tonon, Laurie L; Boyault, Sandrine S; Mulugeta, Eskeatnaf E; Treilleux, Isabelle I; MacGrogan, Gaëtan G; Arnould, Laurent L; Kielbassa, Janice J; Le Texier, Vincent V; Blanché, Hélène H; Deleuze, Jean-François JF; Jacquemier, Jocelyne J; Mathieu, Marie-Christine MC; Penault-Llorca, Frédérique F; Bibeau, Frédéric F; Mariani, Odette O; Mannina, Cécile C; Pierga, Jean-Yves JY; Trédan, Olivier O; Bachelot, Thomas T; Bonnefoi, Hervé H; Romieu, Gilles G; Fumoleau, Pierre P; Delaloge, Suzette S; Rios, Maria M; Ferrero, Jean-Marc JM; Tarpin, Carole C; Bouteille, Catherine C; Calvo, Fabien F; Gut, Ivo Glynne IG; Gut, Marta M; Martin, Sancha S; Nik-Zainal, Serena S; Stratton, Michael R MR; Pauporté, Iris I; Saintigny, Pierre P; Birnbaum, Daniel D; Viari, Alain A; Thomas, Gilles G
Publication Date: 2016-07-13

Variant appearance in text: HBB: 364G>C; Glu122Gln
PubMed Link: 27406316
Variant Present in the following documents:
  • ncomms12222-s3.xlsx, sheet 1
View BVdb publication page



Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations.

Plos One
Chassanidis, Christos C; Boutou, Effrossyni E; Voskaridou, Ersi E; Balassopoulou, Angeliki A
Publication Date: 2016

Variant appearance in text: rs33946267
PubMed Link: 27351925
Variant Present in the following documents:
  • Main text
  • pone.0157393.pdf
View BVdb publication page



The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Scientific Reports
Kountouris, Petros P; Kousiappa, Ioanna I; Papasavva, Thessalia T; Christopoulos, George G; Pavlou, Eleni E; Petrou, Miranda M; Feleki, Xenia X; Karitzie, Eleni E; Phylactides, Marios M; Fanis, Pavlos P; Lederer, Carsten W CW; Kyrri, Andreani R AR; Kalogerou, Eleni E; Makariou, Christiana C; Ioannou, Christiana C; Kythreotis, Loukas L; Hadjilambi, Georgia G; Andreou, Nicoletta N; Pangalou, Evangelia E; Savvidou, Irene I; Angastiniotis, Michael M; Hadjigavriel, Michael M; Sitarou, Maria M; Kolnagou, Annita A; Kleanthous, Marina M; Christou, Soteroula S
Publication Date: 2016-05-20

Variant appearance in text: HBB: 364G>C
PubMed Link: 27199182
Variant Present in the following documents:
  • Main text
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: HBB: E122Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



PaPI: pseudo amino acid composition to score human protein-coding variants.

Bmc Bioinformatics
Limongelli, Ivan I; Marini, Simone S; Bellazzi, Riccardo R
Publication Date: 2015-04-19

Variant appearance in text: HBB: E122Q
PubMed Link: 25928477
Variant Present in the following documents:
  • Main text
  • 12859_2015_554_MOESM4_ESM.xls, sheet 1
View BVdb publication page



Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis.

Revista Brasileira De Hematologia E Hemoterapia
Torres, Lidiane de Souza Lde S; Okumura, Jéssika Viviani JV; Silva, Danilo Grünig Humberto da DG; Bonini-Domingos, Claudia Regina CR
Publication Date: 2015

Variant appearance in text: HBB: 364G>C; rs33946267
PubMed Link: 25818823
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature Genetics
Auer, Paul L PL; Teumer, Alexander A; Schick, Ursula U; O'Shaughnessy, Andrew A; Lo, Ken Sin KS; Chami, Nathalie N; Carlson, Chris C; de Denus, Simon S; Dubé, Marie-Pierre MP; Haessler, Jeff J; Jackson, Rebecca D RD; Kooperberg, Charles C; Perreault, Louis-Philippe Lemieux LP; Nauck, Matthias M; Peters, Ulrike U; Rioux, John D JD; Schmidt, Frank F; Turcot, Valérie V; Völker, Uwe U; Völzke, Henry H; Greinacher, Andreas A; Hsu, Li L; Tardif, Jean-Claude JC; Diaz, George A GA; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2014-06

Variant appearance in text: rs33946267
PubMed Link: 24777453
Variant Present in the following documents:
  • NIHMS581495-supplement-1.pdf
View BVdb publication page



Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation
Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG
Publication Date: 2014-01

Variant appearance in text: rs33946267
PubMed Link: 24123366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.

The Journal Of Biological Chemistry
Alvarez-Dominguez, Juan R JR; Amosova, Olga O; Fresco, Jacques R JR
Publication Date: 2013-04-19

Variant appearance in text: HBB: 364G>C
PubMed Link: 23457306
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: HBB: 364G>C; E122Q; rs33946267
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 1
View BVdb publication page



Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.

The Journal Of Molecular Diagnostics : Jmd
Thongnoppakhun, Wanna W; Jiemsup, Surasak S; Yongkiettrakul, Suganya S; Kanjanakorn, Chompunut C; Limwongse, Chanin C; Wilairat, Prapon P; Vanasant, Anusorn A; Rungroj, Nanyawan N; Yenchitsomanus, Pa-Thai PT
Publication Date: 2009-07

Variant appearance in text: HBB: 364G>C
PubMed Link: 19460936
Variant Present in the following documents:
  • Main text
View BVdb publication page