LRRK2 c.4321C>G ;(p.R1441G)

Variant ID: 12-40704236-C-G

NM_198578.3(LRRK2):c.4321C>G;(p.R1441G)

This variant was identified in 535 publications

View GRCh38 version.




Publications:


Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Biomolecules
Ito, Genta G; Utsunomiya-Tate, Naoko N
Publication Date: 2023-05-16

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37238714
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00845.pdf
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LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Biomolecules
Zhang, Xiaojuan X; Kortholt, Arjan A
Publication Date: 2023-03-28

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.pdf
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Outlook of PINK1/Parkin signaling in molecular etiology of Parkinson's disease, with insights into Pink1 knockout models.

Zoological Research
Wang, Zhangting Z; Chan, See-Wing SW; Zhao, Hui H; Miu, Kai-Kei KK; Chan, Wai-Yee WY
Publication Date: 2023-05-18

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37161651
Variant Present in the following documents:
  • zr-44-3-559.pdf
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Identification of schizophrenia symptom-related gene modules by postmortem brain transcriptome analysis.

Translational Psychiatry
Miyahara, Kazusa K; Hino, Mizuki M; Shishido, Risa R; Nagaoka, Atsuko A; Izumi, Ryuta R; Hayashi, Hideki H; Kakita, Akiyoshi A; Yabe, Hirooki H; Tomita, Hiroaki H; Kunii, Yasuto Y
Publication Date: 2023-05-04

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37142572
Variant Present in the following documents:
  • 41398_2023_Article_2449.pdf
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Effects of HDAC inhibitors on neuroblastoma SH-SY5Y cell differentiation into mature neurons via the Wnt signaling pathway.

Bmc Neuroscience
Choi, Jiyun J; Hwang, Jinsu J; Ramalingam, Mahesh M; Jeong, Han-Seong HS; Jang, Sujeong S
Publication Date: 2023-05-01

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37127577
Variant Present in the following documents:
  • 12868_2023_Article_798.pdf
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Structural and Functional Imaging Correlates of Visual Hallucinations in Parkinson's Disease.

Current Neurology And Neuroscience Reports
Bhome, Rohan R; Thomas, George Edward Calver GEC; Zarkali, Angeliki A; Weil, Rimona Sharon RS
Publication Date: 2023-05-01

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37126201
Variant Present in the following documents:
  • 11910_2023_Article_1267.pdf
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MicroRNA-19b-3p dysfunction of mesenchymal stem cell-derived exosomes from patients with abdominal aortic aneurysm impairs therapeutic efficacy.

Journal Of Nanobiotechnology
Zhang, Yuxiao Y; Huang, Xiaoran X; Sun, Tucheng T; Shi, Linli L; Liu, Baojuan B; Hong, Yimei Y; Fu, Qing-Ling QL; Zhang, Yuelin Y; Li, Xin X
Publication Date: 2023-04-26

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37101174
Variant Present in the following documents:
  • 12951_2023_Article_1894.pdf
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LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Annals Of Clinical And Translational Neurology
Sosero, Yuri L YL; Gan-Or, Ziv Z
Publication Date: 2023-04-06

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
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Association of polygenic risk score with response to deep brain stimulation in Parkinson's disease.

Bmc Neurology
Yoon, Esther E; Ahmed, Sarah S; Li, Ryan R; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; Dustin, Irene I; Scholz, Sonja S; Hallett, Mark M; Ehrlich, Debra D
Publication Date: 2023-04-04

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37016359
Variant Present in the following documents:
  • Main text
  • 12883_2023_Article_3188.pdf
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Elevated urine BMP phospholipids in LRRK2 and VPS35 mutation carriers with and without Parkinson's disease.

Npj Parkinson'S Disease
Gomes, Sara S; Garrido, Alicia A; Tonelli, Francesca F; Obiang, Donina D; Tolosa, Eduardo E; Martí, Maria José MJ; Ruiz-Martínez, Javier J; Vinagre-Aragón, Ana A; Hernandez-Eguiazu, Haizea H; Croitoru, Ioana I; Marshall, Vicky L VL; Koenig, Theresa T; Hotzy, Christoph C; Hsieh, Frank F; Sakalosh, Marianna M; Tengstrand, Elizabeth E; Padmanabhan, Shalini S; Merchant, Kalpana K; Bruecke, Christof C; Pirker, Walter W; Zimprich, Alexander A; Sammler, Esther E
Publication Date: 2023-04-04

Variant appearance in text: LRRK2: R1441G
PubMed Link: 37015928
Variant Present in the following documents:
  • Main text
  • 41531_2023_Article_482.pdf
  • 41531_2023_482_MOESM1_ESM.pdf
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Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

International Journal Of Molecular Sciences
Bougea, Anastasia A
Publication Date: 2023-03-09

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36982356
Variant Present in the following documents:
  • Main text
  • ijms-24-05281.pdf
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The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.

Cell Genomics
Bressan, Elisangela E; Reed, Xylena X; Bansal, Vikas V; Hutchins, Elizabeth E; Cobb, Melanie M MM; Webb, Michelle G MG; Alsop, Eric E; Grenn, Francis P FP; Illarionova, Anastasia A; Savytska, Natalia N; Violich, Ivo I; Broeer, Stefanie S; Fernandes, Noémia N; Sivakumar, Ramiyapriya R; Beilina, Alexandra A; Billingsley, Kimberley J KJ; Berghausen, Joos J; Pantazis, Caroline B CB; Pitz, Vanessa V; Patel, Dhairya D; Daida, Kensuke K; Meechoovet, Bessie B; Reiman, Rebecca R; Courtright-Lim, Amanda A; Logemann, Amber A; Antone, Jerry J; Barch, Mariya M; Kitchen, Robert R; Li, Yan Y; Dalgard, Clifton L CL; , ; Rizzu, Patrizia P; Hernandez, Dena G DG; Hjelm, Brooke E BE; Nalls, Mike M; Gibbs, J Raphael JR; Finkbeiner, Steven S; Cookson, Mark R MR; Van Keuren-Jensen, Kendall K; Craig, David W DW; Singleton, Andrew B AB; Heutink, Peter P; Blauwendraat, Cornelis C
Publication Date: 2023-03-08

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36950378
Variant Present in the following documents:
  • Main text
  • mmc10.pdf
  • main.pdf
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A comprehensive review on pharmacological applications and drug-induced toxicity of valproic acid.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society
Safdar, Ayesha A; Ismail, Fatima F
Publication Date: 2023-02

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36942277
Variant Present in the following documents:
  • Main text
  • main.pdf
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Insights into the cellular consequences of LRRK2-mediated Rab protein phosphorylation.

Biochemical Society Transactions
Fasiczka, Rachel R; Naaldijk, Yahaira Y; Brahmia, Besma B; Hilfiker, Sabine S
Publication Date: 2023-03-17

Variant appearance in text: LRRK2: R1441g
PubMed Link: 36929701
Variant Present in the following documents:
  • BST-51-587.pdf
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Genetic testing for Parkinson's disease in clinical practice.

Journal Of Neural Transmission (Vienna, Austria : 1996)
Gasser, Thomas T
Publication Date: 2023-03-16

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36929227
Variant Present in the following documents:
  • 702_2023_Article_2612.pdf
View BVdb publication page



Recent Advances in the Treatment of Genetic Forms of Parkinson's Disease: Hype or Hope?

Cells
Cavallieri, Francesco F; Cury, Rubens G RG; Guimarães, Thiago T; Fioravanti, Valentina V; Grisanti, Sara S; Rossi, Jessica J; Monfrini, Edoardo E; Zedde, Marialuisa M; Di Fonzo, Alessio A; Valzania, Franco F; Moro, Elena E
Publication Date: 2023-02-27

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36899899
Variant Present in the following documents:
  • Main text
  • cells-12-00764.pdf
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The function of Golgi apparatus in LRRK2-associated Parkinson's disease.

Frontiers In Molecular Neuroscience
Wei, Yonghang Y; Awan, Maher Un Nisa MUN; Bai, Liping L; Bai, Jie J
Publication Date: 2023

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36896008
Variant Present in the following documents:
  • Main text
  • fnmol-16-1097633.pdf
View BVdb publication page



Who is at Risk of Parkinson Disease? Refining the Preclinical Phase of GBA1 and LRRK2 Variant Carriers: a Clinical, Biochemical, and Imaging Approach.

Current Neurology And Neuroscience Reports
Menozzi, Elisa E; Schapira, Anthony H V AHV; Blandini, Fabio F; Avenali, Micol M
Publication Date: 2023-03-07

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36881256
Variant Present in the following documents:
  • Main text
  • 11910_2023_Article_1259.pdf
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Exogenous monocyte myeloid-derived suppressor cells ameliorate immune imbalance, neuroinflammation and cognitive impairment in 5xFAD mice infected with Porphyromonas gingivalis.

Journal Of Neuroinflammation
Cheng, Xiao X; Chi, Li L; Lin, Tianqiong T; Liang, Fengyin F; Pei, Zhong Z; Sun, Jianbo J; Teng, Wei W
Publication Date: 2023-03-02

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36864466
Variant Present in the following documents:
  • 12974_2023_Article_2743.pdf
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Structural and functional changes in the retina in Parkinson's disease.

Journal Of Neurology, Neurosurgery, And Psychiatry
Alves, Jordan N JN; Westner, Britta U BU; Højlund, Andreas A; Weil, Rimona Sharon RS; Dalal, Sarang S SS
Publication Date: 2023-02-17

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36806480
Variant Present in the following documents:
  • Main text
  • EMS170650.pdf
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Differential serum microRNAs in premotor LRRK2 G2019S carriers from Parkinson's disease.

Npj Parkinson'S Disease
Soto, Marta M; Fernández, Manel M; Bravo, Paloma P; Lahoz, Sara S; Garrido, Alicia A; Sánchez-Rodríguez, Antonio A; Rivera-Sánchez, María M; Sierra, María M; Melón, Paula P; Roig-García, Ana A; Naito, Anna A; Casey, Bradford B; Camps, Jordi J; Tolosa, Eduardo E; Martí, María-José MJ; Infante, Jon J; Ezquerra, Mario M; Fernández-Santiago, Rubén R
Publication Date: 2023-02-02

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36732514
Variant Present in the following documents:
  • Main text
  • 41531_2023_Article_451.pdf
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Peripheral inflammatory immune response differs among sporadic and familial Parkinson's disease.

Npj Parkinson'S Disease
Muñoz-Delgado, Laura L; Macías-García, Daniel D; Periñán, María Teresa MT; Jesús, Silvia S; Adarmes-Gómez, Astrid D AD; Bonilla Toribio, Marta M; Buiza Rueda, Dolores D; Jiménez-Jaraba, María Del Valle MDV; Benítez Zamora, Belén B; Díaz Belloso, Rafael R; García-Díaz, Sergio S; Martín-Bórnez, Miguel M; Pineda Sánchez, Rocío R; Carrillo, Fátima F; Gómez-Garre, Pilar P; Mir, Pablo P
Publication Date: 2023-01-31

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36720879
Variant Present in the following documents:
  • Main text
  • 41531_2023_457_MOESM1_ESM.pdf
  • 41531_2023_457_MOESM2_ESM.pdf
  • 41531_2023_Article_457.pdf
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Is Glial Dysfunction the Key Pathogenesis of LRRK2-Linked Parkinson's Disease?

Biomolecules
Iseki, Tatou T; Imai, Yuzuru Y; Hattori, Nobutaka N
Publication Date: 2023-01-15

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36671564
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00178.pdf
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LRRK2 decreases microglial actin dynamics by filamentous actin depolymerization and Rac1 inhibition.

Animal Cells And Systems
Kim, Beomsue B; Suh, Young Ho YH; Joe, Eunhye E
Publication Date: 2022

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36605588
Variant Present in the following documents:
  • TACS_26_2158219.pdf
View BVdb publication page



How Well Do Rodent Models of Parkinson's Disease Recapitulate Early Non-Motor Phenotypes? A Systematic Review.

Biomedicines
Zhang, Tracy D TD; Kolbe, Scott C SC; Beauchamp, Leah C LC; Woodbridge, Ella K EK; Finkelstein, David I DI; Burrows, Emma L EL
Publication Date: 2022-11-24

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36551782
Variant Present in the following documents:
  • Main text
  • biomedicines-10-03026.pdf
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Structural basis for Parkinson's disease-linked LRRK2's binding to microtubules.

Nature Structural & Molecular Biology
Snead, David M DM; Matyszewski, Mariusz M; Dickey, Andrea M AM; Lin, Yu Xuan YX; Leschziner, Andres E AE; Reck-Peterson, Samara L SL
Publication Date: 2022-12-12

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36510024
Variant Present in the following documents:
  • Main text
  • 41594_2022_Article_863.pdf
View BVdb publication page



Deep brain stimulation in Early Onset Parkinson's disease.

Frontiers In Neurology
Krause, Patricia P; Reimer, Johanna J; Kaplan, Jonathan J; Borngräber, Friederike F; Schneider, Gerd-Helge GH; Faust, Katharina K; Kühn, Andrea A AA
Publication Date: 2022

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36468049
Variant Present in the following documents:
  • Main text
  • fneur-13-1041449.pdf
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Bioinformatics analysis of gene expression profile and functional analysis in periodontitis and Parkinson's disease.

Frontiers In Aging Neuroscience
Wang, Xiaofeng X; Shi, Naixu N; Wu, Baiao B; Yuan, Lin L; Chen, Jiapeng J; Ye, Cong C; Hao, Miao M
Publication Date: 2022

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36437997
Variant Present in the following documents:
  • fnagi-14-1029637.pdf
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Microglial cells: Sensors for neuronal activity and microbiota-derived molecules.

Frontiers In Immunology
D'Alessandro, Giuseppina G; Marrocco, Francesco F; Limatola, Cristina C
Publication Date: 2022

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36426369
Variant Present in the following documents:
  • fimmu-13-1011129.pdf
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LRRK2 and Lipid Pathways: Implications for Parkinson's Disease.

Biomolecules
Galper, Jasmin J; Kim, Woojin S WS; Dzamko, Nicolas N
Publication Date: 2022-10-30

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36358947
Variant Present in the following documents:
  • Main text
  • biomolecules-12-01597.pdf
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Defective PTEN-induced kinase 1/Parkin mediated mitophagy and neurodegenerative diseases.

Frontiers In Cellular Neuroscience
Braun, Megan M MM; Puglielli, Luigi L
Publication Date: 2022

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36339819
Variant Present in the following documents:
  • fncel-16-1031153.pdf
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Epigenetic Changes in Prion and Prion-like Neurodegenerative Diseases: Recent Advances, Potential as Biomarkers, and Future Perspectives.

International Journal Of Molecular Sciences
Hernaiz, Adelaida A; Toivonen, Janne Markus JM; Bolea, Rosa R; Martín-Burriel, Inmaculada I
Publication Date: 2022-10-20

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36293477
Variant Present in the following documents:
  • Main text
  • ijms-23-12609.pdf
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Long-term inhibition of mutant LRRK2 hyper-kinase activity reduced mouse brain α-synuclein oligomers without adverse effects.

Npj Parkinson'S Disease
Ho, Philip Wing-Lok PW; Chang, Eunice Eun-Seo EE; Leung, Chi-Ting CT; Liu, Huifang H; Malki, Yasine Y; Pang, Shirley Yin-Yu SY; Choi, Zoe Yuen-Kiu ZY; Liang, Yingmin Y; Lai, Weng Seng WS; Ruan, Yuefei Y; Leung, Kenneth Mei-Yee KM; Yung, Susan S; Mak, Judith Choi-Wo JC; Kung, Michelle Hiu-Wai MH; Ramsden, David B DB; Ho, Shu-Leong SL
Publication Date: 2022-09-10

Variant appearance in text: LRRK2: R1441G
PubMed Link: 36088364
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_386.pdf
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Increased Phospho-AKT in Blood Cells from LRRK2 G2019S Mutation Carriers.

Annals Of Neurology
Garrido, Alicia A; Pérez-Sisqués, Leticia L; Simonet, Cristina C; Campoy-Campos, Genís G; Solana-Balaguer, Júlia J; Martín-Flores, Núria N; Fernández, Manel M; Soto, Marta M; Obiang, Donina D; Cámara, Ana A; Valldeoriola, Francesc F; Muñoz, Esteban E; Compta, Yaroslau Y; Pérez-Navarro, Esther E; Alberch, Jordi J; Tolosa, Eduardo E; Martí, María-José MJ; Ezquerra, Mario M; Malagelada, Cristina C; Fernández-Santiago, Rubén R
Publication Date: 2022-11

Variant appearance in text: LRRK2: R1441G
PubMed Link: 35929078
Variant Present in the following documents:
  • Main text
  • ANA-92-888.pdf
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Effect Modification between Genes and Environment and Parkinson's Disease Risk.

Annals Of Neurology
Periñán, Maria Teresa MT; Brolin, Kajsa K; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; Klein, Christine C; Gan-Or, Ziv Z; Singleton, Andrew A; Gomez-Garre, Pilar P; Swanberg, Maria M; Mir, Pablo P; Noyce, Alastair A
Publication Date: 2022-11

Variant appearance in text: LRRK2: Arg1441Gly
PubMed Link: 35913124
Variant Present in the following documents:
  • Main text
  • ANA-92-715.pdf
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Oral-Gut-Brain Axis in Experimental Models of Periodontitis: Associating Gut Dysbiosis With Neurodegenerative Diseases.

Frontiers In Aging
Sansores-España, Luis Daniel LD; Melgar-Rodríguez, Samanta S; Olivares-Sagredo, Katherine K; Cafferata, Emilio A EA; Martínez-Aguilar, Víctor Manuel VM; Vernal, Rolando R; Paula-Lima, Andrea Cristina AC; Díaz-Zúñiga, Jaime J
Publication Date: 2021

Variant appearance in text: LRRK2: R1441G
PubMed Link: 35822001
Variant Present in the following documents:
  • fragi-02-781582.pdf
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Dendritic involvement in inhibition and disinhibition of vulnerable dopaminergic neurons in healthy and pathological conditions.

Neurobiology Of Disease
Evans, R C RC
Publication Date: 2022-10-01

Variant appearance in text: LRRK2: R1441G
PubMed Link: 35820645
Variant Present in the following documents:
  • Main text
  • nihms-1862005.pdf
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The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization.

Biology Open
Lara Ordóñez, Antonio Jesús AJ; Fasiczka, Rachel R; Fernández, Belén B; Naaldijk, Yahaira Y; Fdez, Elena E; Blanca Ramírez, Marian M; Phan, Sébastien S; Boassa, Daniela D; Hilfiker, Sabine S
Publication Date: 2022-08-15

Variant appearance in text: LRRK2: R1441G
PubMed Link: 35776681
Variant Present in the following documents:
  • Main text
  • biolopen-11-059468.pdf
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