MCM6 c.1917+321T>G

Variant ID: 2-136608651-A-C

NM_005915.5(MCM6):c.1917+321T>G

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MCM6: 1917+321T>G
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Revealing Joseon period People's single nucleotide polymorphism associated with lactase gene by ancient DNA analysis of human remains from archaeological sites in Korea.

Anatomy & Cell Biology
Oh, Chang Seok CS; Kim, Myeung Ju MJ; Kim, Yi-Suk YS; Min, Sori S; Oh, Kyong Taek KT; Lee, Soong Deok SD; Shin, Dong Hoon DH
Publication Date: 2022-12-01

Variant appearance in text: rs41380347
PubMed Link: 36450657
Variant Present in the following documents:
  • Main text
  • acb-56-1-54.pdf
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Genomic transformation and social organization during the Copper Age-Bronze Age transition in southern Iberia.

Science Advances
Villalba-Mouco, Vanessa V; Oliart, Camila C; Rihuete-Herrada, Cristina C; Childebayeva, Ainash A; Rohrlach, Adam B AB; Fregeiro, María Inés MI; Celdrán Beltrán, Eva E; Velasco-Felipe, Carlos C; Aron, Franziska F; Himmel, Marie M; Freund, Caecilia C; Alt, Kurt W KW; Salazar-García, Domingo C DC; García Atiénzar, Gabriel G; de Miguel Ibáñez, Ma Paz MP; Hernández Pérez, Mauro S MS; Barciela, Virginia V; Romero, Alejandro A; Ponce, Juana J; Martínez, Andrés A; Lomba, Joaquín J; Soler, Jorge J; Martínez, Ana Pujante AP; Avilés Fernández, Azucena A; Haber-Uriarte, María M; Roca de Togores Muñoz, Consuelo C; Olalde, Iñigo I; Lalueza-Fox, Carles C; Reich, David D; Krause, Johannes J; García Sanjuán, Leonardo L; Lull, Vicente V; Micó, Rafael R; Risch, Roberto R; Haak, Wolfgang W
Publication Date: 2021-11-19

Variant appearance in text: rs41380347
PubMed Link: 34788096
Variant Present in the following documents:
  • sciadv.abi7038_sm.pdf
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Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas.

Frontiers In Genetics
Guimarães Alves, Ana Cecília AC; Sukow, Natalie Mary NM; Adelman Cipolla, Gabriel G; Mendes, Marla M; Leal, Thiago P TP; Petzl-Erler, Maria Luiza ML; Lehtonen Rodrigues Souza, Ricardo R; Rainha de Souza, Ilíada I; Sanchez, Cesar C; Santolalla, Meddly M; Loesch, Douglas D; Dean, Michael M; Machado, Moara M; Moon, Jee-Young JY; Kaplan, Robert R; North, Kari E KE; Weiss, Scott S; Barreto, Mauricio L ML; Lima-Costa, M Fernanda MF; Guio, Heinner H; Cáceres, Omar O; Padilla, Carlos C; Tarazona-Santos, Eduardo E; Mata, Ignacio F IF; Dieguez, Elena E; Raggio, Víctor V; Lescano, Andres A; Tumas, Vitor V; Borges, Vanderci V; Ferraz, Henrique B HB; Rieder, Carlos R CR; Schumacher-Schuh, Artur A; Santos-Lobato, Bruno L BL; Chana-Cuevas, Pedro P; Fernandez, William W; Arboleda, Gonzalo G; Arboleda, Humberto H; Arboleda-Bustos, Carlos E CE; O'Connor, Timothy D TD; Beltrame, Marcia Holsbach MH; Borda, Victor V
Publication Date: 2021

Variant appearance in text: rs41380347
PubMed Link: 34630506
Variant Present in the following documents:
  • Main text
  • fgene-12-671079.pdf
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Development of a novel SNP assay to detect lactase persistence associated genetic variants.

Molecular Biology Reports
De Luca, Pasquale P; Iaconis, Daniela D; Biffali, Elio E; Enza, Coluccia C; de Magistris, Laura L; Riegler, Gabriele G; Pappalardo, Diego D; Amato, Maria Rosaria MR; Iardino, Patrizia P; Montanino, Concetta C; De Felice, Bruna B
Publication Date: 2021-11

Variant appearance in text: rs41380347
PubMed Link: 34515921
Variant Present in the following documents:
  • Main text
  • 11033_2021_Article_6698.pdf
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The genomic history of the Middle East.

Cell
Almarri, Mohamed A MA; Haber, Marc M; Lootah, Reem A RA; Hallast, Pille P; Al Turki, Saeed S; Martin, Hilary C HC; Xue, Yali Y; Tyler-Smith, Chris C
Publication Date: 2021-09-02

Variant appearance in text: rs41380347
PubMed Link: 34352227
Variant Present in the following documents:
  • Main text
  • main.pdf
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Evaluating the Robustness of Biomarkers of Dairy Food Intake in a Free-Living Population Using Single- and Multi-Marker Approaches.

Metabolites
Li, Katherine J KJ; Burton-Pimentel, Kathryn J KJ; Brouwer-Brolsma, Elske M EM; Feskens, Edith J M EJM; Blaser, Carola C; Badertscher, René R; Portmann, Reto R; Vergères, Guy G
Publication Date: 2021-06-17

Variant appearance in text: rs41380347
PubMed Link: 34204298
Variant Present in the following documents:
  • Main text
  • metabolites-11-00395.pdf
View BVdb publication page



Lactose Intolerance Assessed by Analysis of Genetic Polymorphism, Breath Test and Symptoms in Patients with Inflammatory Bowel Disease.

Nutrients
Nardone, Olga Maria OM; Manfellotto, Francesco F; D'Onofrio, Caterina C; Rocco, Alba A; Annona, Giovanni G; Sasso, Francesca F; De Luca, Pasquale P; Imperatore, Nicola N; Testa, Anna A; de Sire, Roberto R; Biffali, Elio E; Castiglione, Fabiana F
Publication Date: 2021-04-14

Variant appearance in text: rs41380347
PubMed Link: 33919766
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variable kinship patterns in Neolithic Anatolia revealed by ancient genomes.

Current Biology : Cb
Yaka, Reyhan R; Mapelli, Igor I; Kaptan, Damla D; Doğu, Ayça A; Chyleński, Maciej M; Erdal, Ömür Dilek ÖD; Koptekin, Dilek D; Vural, Kıvılcım Başak KB; Bayliss, Alex A; Mazzucato, Camilla C; Fer, Evrim E; Çokoğlu, Sevim Seda SS; Lagerholm, Vendela Kempe VK; Krzewińska, Maja M; Karamurat, Cansu C; Gemici, Hasan Can HC; Sevkar, Arda A; Dağtaş, Nihan Dilşad ND; Kılınç, Gülşah Merve GM; Adams, Donovan D; Munters, Arielle R AR; Sağlıcan, Ekin E; Milella, Marco M; Schotsmans, Eline M J EMJ; Yurtman, Erinç E; Çetin, Mehmet M; Yorulmaz, Sevgi S; Altınışık, N Ezgi NE; Ghalichi, Ayshin A; Juras, Anna A; Bilgin, C Can CC; Günther, Torsten T; Storå, Jan J; Jakobsson, Mattias M; de Kleijn, Maurice M; Mustafaoğlu, Gökhan G; Fairbairn, Andrew A; Pearson, Jessica J; Togan, İnci İ; Kayacan, Nurcan N; Marciniak, Arkadiusz A; Larsen, Clark Spencer CS; Hodder, Ian I; Atakuman, Çiğdem Ç; Pilloud, Marin M; Sürer, Elif E; Gerritsen, Fokke F; Özbal, Rana R; Baird, Douglas D; Erdal, Yılmaz Selim YS; Duru, Güneş G; Özbaşaran, Mihriban M; Haddow, Scott D SD; Knüsel, Christopher J CJ; Götherström, Anders A; Özer, Füsun F; Somel, Mehmet M
Publication Date: 2021-06-07

Variant appearance in text: rs41380347
PubMed Link: 33857427
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetic Variation of Lactase Persistence Alleles in Sudan and South Sudan.

Genome Biology And Evolution
Hollfelder, Nina N; Babiker, Hiba H; Granehäll, Lena L; Schlebusch, Carina M CM; Jakobsson, Mattias M
Publication Date: 2021-05-07

Variant appearance in text: rs41380347
PubMed Link: 33760047
Variant Present in the following documents:
  • evab065.pdf
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Human population dynamics and Yersinia pestis in ancient northeast Asia.

Science Advances
Kılınç, Gülşah Merve GM; Kashuba, Natalija N; Koptekin, Dilek D; Bergfeldt, Nora N; Dönertaş, Handan Melike HM; Rodríguez-Varela, Ricardo R; Shergin, Dmitrij D; Ivanov, Grigorij G; Kichigin, Dmitrii D; Pestereva, Kjunnej K; Volkov, Denis D; Mandryka, Pavel P; Kharinskii, Artur A; Tishkin, Alexey A; Ineshin, Evgenij E; Kovychev, Evgeniy E; Stepanov, Aleksandr A; Dalén, Love L; Günther, Torsten T; Kırdök, Emrah E; Jakobsson, Mattias M; Somel, Mehmet M; Krzewińska, Maja M; Storå, Jan J; Götherström, Anders A
Publication Date: 2021-01

Variant appearance in text: rs41380347
PubMed Link: 33523963
Variant Present in the following documents:
  • abc4587_SM.pdf
  • supp_7_2_eabc4587__1.pdf
View BVdb publication page



A MicroRNA Linking Human Positive Selection and Metabolic Disorders.

Cell
Wang, Lifeng L; Sinnott-Armstrong, Nasa N; Wagschal, Alexandre A; Wark, Abigail R AR; Camporez, Joao-Paulo JP; Perry, Rachel J RJ; Ji, Fei F; Sohn, Yoojin Y; Oh, Justin J; Wu, Su S; Chery, Jessica J; Moud, Bahareh Nemati BN; Saadat, Alham A; Dankel, Simon N SN; Mellgren, Gunnar G; Tallapragada, Divya Sri Priyanka DSP; Strobel, Sophie Madlen SM; Lee, Mi-Jeong MJ; Tewhey, Ryan R; Sabeti, Pardis C PC; Schaefer, Anne A; Petri, Andreas A; Kauppinen, Sakari S; Chung, Raymond T RT; Soukas, Alexander A; Avruch, Joseph J; Fried, Susan K SK; Hauner, Hans H; Sadreyev, Ruslan I RI; Shulman, Gerald I GI; Claussnitzer, Melina M; Näär, Anders M AM
Publication Date: 2020-10-29

Variant appearance in text: rs41380347
PubMed Link: 33058756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies.

Nutrients
Anguita-Ruiz, Augusto A; Aguilera, Concepción M CM; Gil, Ángel Á
Publication Date: 2020-09-03

Variant appearance in text: rs41380347
PubMed Link: 32899182
Variant Present in the following documents:
  • Main text
  • nutrients-12-02689.pdf
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Mini-Review on the Possible Interconnections between the Gut-Brain Axis and the Infertility-Related Neuropsychiatric Comorbidities.

Brain Sciences
Simionescu, Gabriela G; Ilie, Ovidiu-Dumitru OD; Ciobica, Alin A; Doroftei, Bogdan B; Maftei, Radu R; Grab, Delia D; McKenna, Jack J; Dhunna, Nitasha N; Mavroudis, Ioannis I; Anton, Emil E
Publication Date: 2020-06-17

Variant appearance in text: rs41380347
PubMed Link: 32560488
Variant Present in the following documents:
  • Main text
  • brainsci-10-00384.pdf
View BVdb publication page



Ancient genomes from northern China suggest links between subsistence changes and human migration.

Nature Communications
Ning, Chao C; Li, Tianjiao T; Wang, Ke K; Zhang, Fan F; Li, Tao T; Wu, Xiyan X; Gao, Shizhu S; Zhang, Quanchao Q; Zhang, Hai H; Hudson, Mark J MJ; Dong, Guanghui G; Wu, Sihao S; Fang, Yanming Y; Liu, Chen C; Feng, Chunyan C; Li, Wei W; Han, Tao T; Li, Ruo R; Wei, Jian J; Zhu, Yonggang Y; Zhou, Yawei Y; Wang, Chuan-Chao CC; Fan, Shengying S; Xiong, Zenglong Z; Sun, Zhouyong Z; Ye, Maolin M; Sun, Lei L; Wu, Xiaohong X; Liang, Fawei F; Cao, Yanpeng Y; Wei, Xingtao X; Zhu, Hong H; Zhou, Hui H; Krause, Johannes J; Robbeets, Martine M; Jeong, Choongwon C; Cui, Yinqiu Y
Publication Date: 2020-06-01

Variant appearance in text: rs41380347
PubMed Link: 32483115
Variant Present in the following documents:
  • 41467_2020_16557_MOESM1_ESM.pdf
View BVdb publication page



Corded Ware cultural complexity uncovered using genomic and isotopic analysis from south-eastern Poland.

Scientific Reports
Linderholm, Anna A; Kılınç, Gülşah Merve GM; Szczepanek, Anita A; Włodarczak, Piotr P; Jarosz, Paweł P; Belka, Zdzislaw Z; Dopieralska, Jolanta J; Werens, Karolina K; Górski, Jacek J; Mazurek, Mirosław M; Hozer, Monika M; Rybicka, Małgorzata M; Ostrowski, Mikołaj M; Bagińska, Jolanta J; Koman, Wiesław W; Rodríguez-Varela, Ricardo R; Storå, Jan J; Götherström, Anders A; Krzewińska, Maja M
Publication Date: 2020-04-14

Variant appearance in text: rs41380347
PubMed Link: 32303690
Variant Present in the following documents:
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 11
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
Publication Date: 2019-10-11

Variant appearance in text: rs41380347
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Update on lactose malabsorption and intolerance: pathogenesis, diagnosis and clinical management.

Gut
Misselwitz, Benjamin B; Butter, Matthias M; Verbeke, Kristin K; Fox, Mark R MR
Publication Date: 2019-11

Variant appearance in text: rs41380347
PubMed Link: 31427404
Variant Present in the following documents:
  • Main text
  • gutjnl-2019-318404.pdf
View BVdb publication page



The evolutionary genetics of lactase persistence in seven ethnic groups across the Iranian plateau.

Human Genomics
Charati, Hadi H; Peng, Min-Sheng MS; Chen, Wei W; Yang, Xing-Yan XY; Jabbari Ori, Roghayeh R; Aghajanpour-Mir, Mohsen M; Esmailizadeh, Ali A; Zhang, Ya-Ping YP
Publication Date: 2019-02-11

Variant appearance in text: rs41380347
PubMed Link: 30744699
Variant Present in the following documents:
  • Main text
  • 40246_2019_Article_195.pdf
View BVdb publication page



Bronze Age population dynamics and the rise of dairy pastoralism on the eastern Eurasian steppe.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Jeong, Choongwon C; Wilkin, Shevan S; Amgalantugs, Tsend T; Bouwman, Abigail S AS; Taylor, William Timothy Treal WTT; Hagan, Richard W RW; Bromage, Sabri S; Tsolmon, Soninkhishig S; Trachsel, Christian C; Grossmann, Jonas J; Littleton, Judith J; Makarewicz, Cheryl A CA; Krigbaum, John J; Burri, Marta M; Scott, Ashley A; Davaasambuu, Ganmaa G; Wright, Joshua J; Irmer, Franziska F; Myagmar, Erdene E; Boivin, Nicole N; Robbeets, Martine M; Rühli, Frank J FJ; Krause, Johannes J; Frohlich, Bruno B; Hendy, Jessica J; Warinner, Christina C
Publication Date: 2018-11-27

Variant appearance in text: rs41380347
PubMed Link: 30397125
Variant Present in the following documents:
  • pnas.1813608115.sapp.pdf
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Association between functional lactase variants and a high abundance of Bifidobacterium in the gut of healthy Japanese people.

Plos One
Kato, Kumiko K; Ishida, Sachiko S; Tanaka, Masami M; Mitsuyama, Eri E; Xiao, Jin-Zhong JZ; Odamaki, Toshitaka T
Publication Date: 2018

Variant appearance in text: rs41380347
PubMed Link: 30339693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Analyses of Human European Diversity at the Southwestern Edge: Isolation, African Influence and Disease Associations in the Canary Islands.

Molecular Biology And Evolution
Guillen-Guio, Beatriz B; Lorenzo-Salazar, Jose M JM; González-Montelongo, Rafaela R; Díaz-de Usera, Ana A; Marcelino-Rodríguez, Itahisa I; Corrales, Almudena A; Cabrera de León, Antonio A; Alonso, Santos S; Flores, Carlos C
Publication Date: 2018-12-01

Variant appearance in text: rs41380347
PubMed Link: 30289472
Variant Present in the following documents:
  • Main text
  • msy190.pdf
View BVdb publication page



African genetic diversity provides novel insights into evolutionary history and local adaptations.

Human Molecular Genetics
Choudhury, Ananyo A; Aron, Shaun S; Sengupta, Dhriti D; Hazelhurst, Scott S; Ramsay, Michèle M
Publication Date: 2018-08-01

Variant appearance in text: rs41380347
PubMed Link: 29741686
Variant Present in the following documents:
  • Main text
View BVdb publication page



World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.

Human Genetics
Liebert, Anke A; López, Saioa S; Jones, Bryony Leigh BL; Montalva, Nicolas N; Gerbault, Pascale P; Lau, Winston W; Thomas, Mark G MG; Bradman, Neil N; Maniatis, Nikolas N; Swallow, Dallas M DM
Publication Date: 2017-11

Variant appearance in text: rs41380347
PubMed Link: 29063188
Variant Present in the following documents:
  • Main text
  • 439_2017_1847_MOESM1_ESM.pdf
  • 439_2017_Article_1847.pdf
View BVdb publication page



Population Stratification in Genetic Association Studies.

Current Protocols In Human Genetics
Hellwege, Jacklyn N JN; Keaton, Jacob M JM; Giri, Ayush A; Gao, Xiaoyi X; Velez Edwards, Digna R DR; Edwards, Todd L TL
Publication Date: 2017-10-18

Variant appearance in text: rs41380347
PubMed Link: 29044472
Variant Present in the following documents:
  • Main text
View BVdb publication page



In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence.

Annals Of Human Genetics
Liebert, Anke A; Jones, Bryony L BL; Danielsen, Erik Thomas ET; Olsen, Anders Krüger AK; Swallow, Dallas M DM; Troelsen, Jesper T JT
Publication Date: 2016-11

Variant appearance in text: rs41380347
PubMed Link: 27714771
Variant Present in the following documents:
  • Main text
  • AHG-80-307.pdf
View BVdb publication page



Genetic diversity of lactase persistence in East African populations.

Bmc Research Notes
Hassan, Hisham Y HY; van Erp, Anke A; Jaeger, Martin M; Tahir, Hanan H; Oosting, Marije M; Joosten, Leo A B LA; Netea, Mihai G MG
Publication Date: 2016-01-04

Variant appearance in text: rs41380347
PubMed Link: 26728963
Variant Present in the following documents:
  • Main text
  • 13104_2015_Article_1833.pdf
View BVdb publication page



Adaptations to local environments in modern human populations.

Current Opinion In Genetics & Development
Jeong, Choongwon C; Di Rienzo, Anna A
Publication Date: 2014-12

Variant appearance in text: rs41380347
PubMed Link: 25129844
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep.

American Journal Of Human Genetics
Jones, Bryony L BL; Raga, Tamiru O TO; Liebert, Anke A; Zmarz, Pawel P; Bekele, Endashaw E; Danielsen, E Thomas ET; Olsen, Anders Krüger AK; Bradman, Neil N; Troelsen, Jesper T JT; Swallow, Dallas M DM
Publication Date: 2013-09-05

Variant appearance in text: rs41380347
PubMed Link: 23993196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Several different lactase persistence associated alleles and high diversity of the lactase gene in the admixed Brazilian population.

Plos One
Friedrich, Deise C DC; Santos, Sidney E B SE; Ribeiro-dos-Santos, Ândrea K C ÂK; Hutz, Mara H MH
Publication Date: 2012

Variant appearance in text: rs41380347
PubMed Link: 23029545
Variant Present in the following documents:
  • Main text
  • pone.0046520.pdf
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Lactase persistence and lipid pathway selection in the Maasai.

Plos One
Wagh, Kshitij K; Bhatia, Aatish A; Alexe, Gabriela G; Reddy, Anupama A; Ravikumar, Vijay V; Seiler, Michael M; Boemo, Michael M; Yao, Ming M; Cronk, Lee L; Naqvi, Asad A; Ganesan, Shridar S; Levine, Arnold J AJ; Bhanot, Gyan G
Publication Date: 2012

Variant appearance in text: rs41380347
PubMed Link: 23028602
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.

Malaria Journal
Lokki, A Inkeri AI; Järvelä, Irma I; Israelsson, Elisabeth E; Maiga, Bakary B; Troye-Blomberg, Marita M; Dolo, Amagana A; Doumbo, Ogobara K OK; Meri, Seppo S; Holmberg, Ville V
Publication Date: 2011-01-14

Variant appearance in text: rs41380347
PubMed Link: 21235777
Variant Present in the following documents:
  • Main text
  • 1475-2875-10-9.pdf
View BVdb publication page



Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations.

European Journal Of Human Genetics : Ejhg
Eaaswarkhanth, Muthukrishnan M; Haque, Ikramul I; Ravesh, Zeinab Z; Romero, Irene Gallego IG; Meganathan, Poorlin Ramakodi PR; Dubey, Bhawna B; Khan, Faizan Ahmed FA; Chaubey, Gyaneshwer G; Kivisild, Toomas T; Tyler-Smith, Chris C; Singh, Lalji L; Thangaraj, Kumarasamy K
Publication Date: 2010-03

Variant appearance in text: rs41380347
PubMed Link: 19809480
Variant Present in the following documents:
  • Main text
View BVdb publication page