Publications:

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Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Ophthalmology Science

Seddon, Johanna M JM; Rosner, Bernard B; De, Dikha D; Huan, Tianxiao T; Java, Anuja A; Atkinson, John J

Publication Date: 2023-06

Variant appearance in text: CFI: G119R

PubMed Link: 36909148

Variant Present in the following documents:

• mmc1.pdf

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COVID-19 vaccination and Atypical hemolytic uremic syndrome.

Frontiers In Immunology

Bouwmeester, Romy N RN; Bormans, Esther M G EMG; Duineveld, Caroline C; van Zuilen, Arjan D AD; van de Logt, Anne-Els AE; Wetzels, Jack F M JFM; van de Kar, Nicole C A J NCAJ

Publication Date: 2022

Variant appearance in text: CFI: 355G>A; Gly119Arg

PubMed Link: 36531998

Variant Present in the following documents:

• DataSheet_1.pdf

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Genetic Risk in Families with Age-Related Macular Degeneration.

Ophthalmology Science

de Breuk, Anita A; Lechanteur, Yara T E YTE; Heesterbeek, Thomas J TJ; Fauser, Sascha S; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2021-12

Variant appearance in text: CFI: 355G>A; Gly119Arg

PubMed Link: 36246952

Variant Present in the following documents:

• Main text
• main.pdf
• mmc7.pdf

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Case studies in bias reduction and inference for electronic health record data with selection bias and phenotype misclassification.

Statistics In Medicine

Beesley, Lauren J LJ; Mukherjee, Bhramar B

Publication Date: 2022-12-10

Variant appearance in text: rs141853578

PubMed Link: 36131394

Variant Present in the following documents:

• SIM-41-5501.pdf

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Systems genomics in age-related macular degeneration.

Experimental Eye Research

den Hollander, Anneke I AI; Mullins, Robert F RF; Orozco, Luz D LD; Voigt, Andrew P AP; Chen, Hsu-Hsin HH; Strunz, Tobias T; Grassmann, Felix F; Haines, Jonathan L JL; Kuiper, Jonas J W JJW; Tumminia, Santa J SJ; Allikmets, Rando R; Hageman, Gregory S GS; Stambolian, Dwight D; Klaver, Caroline C W CCW; Boeke, Jef D JD; Chen, Hao H; Honigberg, Lee L; Katti, Suresh S; Frazer, Kelly A KA; Weber, Bernhard H F BHF; Gorin, Michael B MB

Publication Date: 2022-12

Variant appearance in text: CFI: Gly119Arg; rs141853578

PubMed Link: 36108770

Variant Present in the following documents:

• Main text
• nihms-1879849.pdf

View BVdb publication page

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Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Immunological Reviews

Rodríguez de Córdoba, Santiago S

Publication Date: 2022-09-11

Variant appearance in text: CFI: Gly119Arg; rs141853578

PubMed Link: 36089777

Variant Present in the following documents:

• Main text
• IMR-313-71.pdf

View BVdb publication page

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An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.

Plos One

Jones, Amy V AV; Curtiss, Darin D; Harris, Claire C; Southerington, Tom T; Hautalahti, Marco M; Wihuri, Pauli P; Mäkelä, Johanna J; Kallionpää, Roosa E RE; Makkonen, Enni E; Knopp, Theresa T; Mannermaa, Arto A; Mäkinen, Erna E; Moilanen, Anne-Mari AM; Tezel, Tongalp H TH; , ; Waheed, Nadia K NK

Publication Date: 2022

Variant appearance in text: CFI: Gly119Arg

PubMed Link: 36067162

Variant Present in the following documents:

• Main text
• pone.0272260.pdf

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Molecular Genetic Mechanisms in Age-Related Macular Degeneration.

Genes

Shughoury, Aumer A; Sevgi, Duriye Damla DD; Ciulla, Thomas A TA

Publication Date: 2022-07-12

Variant appearance in text: CFI: Gly119Arg

PubMed Link: 35886016

Variant Present in the following documents:

• Main text
• genes-13-01233.pdf

View BVdb publication page

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Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization.

Ophthalmology Science

Jones, Amy V AV; MacGregor, Stuart S; Han, Xikun X; Francis, James J; Harris, Claire C; , ; Kavanagh, David D; Lotery, Andrew A; Waheed, Nadia N

Publication Date: 2022-06

Variant appearance in text: CFI: Gly119Arg; rs141853578

PubMed Link: 35693873

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Complement Factor I Variants in Complement-Mediated Renal Diseases.

Frontiers In Immunology

Zhang, Yuzhou Y; Goodfellow, Renee X RX; Ghiringhelli Borsa, Nicolo N; Dunlop, Hannah C HC; Presti, Stephen A SA; Meyer, Nicole C NC; Shao, Dingwu D; Roberts, Sarah M SM; Jones, Michael B MB; Pitcher, Gabriella R GR; Taylor, Amanda O AO; Nester, Carla M CM; Smith, Richard J H RJH

Publication Date: 2022

Variant appearance in text: CFI: 355G>A; Gly119Arg

PubMed Link: 35619721

Variant Present in the following documents:

• Main text
• fimmu-13-866330.pdf

View BVdb publication page

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Complement Gene Variant Effect on Relapse of Complement-Mediated Thrombotic Microangiopathy after Eculizumab Cessation.

Blood Advances

Acosta-Medina, Aldo A AA; Moyer, Ann M AM; Go, Ronald S RS; Willrich, Maria Alice V MAV; Fervenza, Fernando C FC; Leung, Nelson N; Bourlon, Christianne C; Winters, Jeffrey L JL; Spears, Grant M GM; Bryant, Sandra C SC; Sridharan, Meera M

Publication Date: 2022-05-09

Variant appearance in text: CFI: 355G>A; Gly119Arg

PubMed Link: 35533258

Variant Present in the following documents:

• BLOODA_ADV-2021-006416-mmc1.pdf

View BVdb publication page

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Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.

Human Molecular Genetics

Tzoumas, Nikolaos N; Kavanagh, David D; Cordell, Heather J HJ; Lotery, Andrew J AJ; Patel, Praveen J PJ; Steel, David H DH

Publication Date: 2022-08-23

Variant appearance in text: CFI: G119R; rs141853578

PubMed Link: 35285476

Variant Present in the following documents:

• Main text
• supplemental_appendix_1_ddac060.pdf
• supplemental_table_4_ddac060.pdf
• supplemental_table_1_ddac060.pdf
• ddac060.pdf

View BVdb publication page

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Genetic associations of protein-coding variants in human disease.

Nature

Sun, Benjamin B BB; Kurki, Mitja I MI; Foley, Christopher N CN; Mechakra, Asma A; Chen, Chia-Yen CY; Marshall, Eric E; Wilk, Jemma B JB; , ; Chahine, Mohamed M; Chevalier, Philippe P; Christé, Georges G; , ; Palotie, Aarno A; Daly, Mark J MJ; Runz, Heiko H

Publication Date: 2022-03

Variant appearance in text: CFI: G119R; rs141853578

PubMed Link: 35197637

Variant Present in the following documents:

• Main text
• 41586_2022_Article_4394.pdf

View BVdb publication page

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Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.

Molecular Vision

Altay, Lebriz L; Liakopoulos, Sandra S; Berghold, Aileen A; Rosenberger, Kerstin-Daniela KD; Ernst, Angela A; de Breuk, Anita A; den Hollander, Anneke I AI; Fauser, Sascha S; Schick, Tina T

Publication Date: 2021

Variant appearance in text: rs141853578

PubMed Link: 35136347

Variant Present in the following documents:

• Main text
• mv-v27-757.pdf

View BVdb publication page

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Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.

Frontiers In Immunology

de Jong, Sarah S; de Breuk, Anita A; Bakker, Bjorn B; Katti, Suresh S; Hoyng, Carel B CB; Nilsson, Sara C SC; Blom, Anna M AM; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI; Volokhina, Elena B EB

Publication Date: 2021

Variant appearance in text: CFI: 355G>A; Gly119Arg

PubMed Link: 35069568

Variant Present in the following documents:

• Main text

View BVdb publication page

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Incidence, progression and risk factors of age-related macular degeneration in 35-95-year-old individuals from three jointly designed German cohort studies.

Bmj Open Ophthalmology

Brandl, Caroline C; Günther, Felix F; Zimmermann, Martina E ME; Hartmann, Kathrin I KI; Eberlein, Gregor G; Barth, Teresa T; Winkler, Thomas W TW; Linkohr, Birgit B; Heier, Margit M; Peters, Annette A; Li, Jeany Q JQ; Finger, Robert P RP; Helbig, Horst H; Weber, Bernhard H F BHF; Küchenhoff, Helmut H; Mueller, Arthur A; Stark, Klaus J KJ; Heid, Iris M IM

Publication Date: 2022

Variant appearance in text: rs141853578

PubMed Link: 35047672

Variant Present in the following documents:

• bmjophth-2021-000912supp001.pdf

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Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Journal Of Personalized Medicine

Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI

Publication Date: 2021-11-25

Variant appearance in text: CFI: Gly119Arg; rs141853578

PubMed Link: 34945728

Variant Present in the following documents:

• Main text
• jpm-11-01256.pdf

View BVdb publication page

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Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Journal Of Personalized Medicine

Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI

Publication Date: 2021-11-25

Variant appearance in text: CFI: Gly119Arg; rs141853578

PubMed Link: 34945728

Variant Present in the following documents:

• Main text
• jpm-11-01256.pdf

View BVdb publication page

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Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

Jama Ophthalmology

de Breuk, Anita A; Heesterbeek, Thomas J TJ; Bakker, Bjorn B; Verzijden, Timo T; Lechanteur, Yara T E YTE; Klaver, Caroline C W CCW; den Hollander, Anneke I AI; Hoyng, Carel B CB

Publication Date: 2021-11-01

Variant appearance in text: rs141853578

PubMed Link: 34647987

Variant Present in the following documents:

• jamaophthalmol-e214102-s001.pdf

View BVdb publication page

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Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.

Human Mutation

Khan, Adnan H AH; Sutton, Janice J; Cree, Angela J AJ; Khandhadia, Samir S; De Salvo, Gabriella G; Tobin, John J; Prakash, Priya P; Arora, Rashi R; Amoaku, Winfried W; Charbel Issa, Peter P; MacLaren, Robert E RE; Bishop, Paul N PN; Peto, Tunde T; Mohamed, Quresh Q; Steel, David H DH; Sivaprasad, Sobha S; Bailey, Clare C; Menon, Geeta G; Kavanagh, David D; Lotery, Andrew J AJ

Publication Date: 2021-09

Variant appearance in text: CFI: 355G>A; Gly119Arg

PubMed Link: 34153144

Variant Present in the following documents:

• Main text
• HUMU-42-1139.pdf

View BVdb publication page

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Baseline characteristics and age-related macular degeneration in participants of the "ASPirin in Reducing Events in the Elderly" (ASPREE)-AMD trial.

Contemporary Clinical Trials Communications

Robman, Liubov D LD; Phuong Thao, Le Thi LT; Guymer, Robyn H RH; Wolfe, Rory R; Woods, Robyn L RL; Hodgson, Lauren Ab LA; Phung, James J; Makeyeva, Galina A GA; Le-Pham, Y-Anh YA; Orchard, Suzanne G SG; Suleiman, Jewhara J; Maguire, Emily E; Trevaks, Ruth E RE; Ward, Stephanie A SA; Riaz, Moeen M; Lacaze, Paul P; Storey, Elsdon E; Abhayaratna, Walter P WP; Nelson, Mark R MR; Ernst, Michael E ME; Reid, Christopher M CM; McNeil, John J JJ; ,

Publication Date: 2020-12

Variant appearance in text: rs141853578

PubMed Link: 33210016

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration.

Translational Vision Science & Technology

Java, Anuja A; Baciu, Peter P; Widjajahakim, Rafael R; Sung, Yun Ju YJ; Yang, Jae J; Kavanagh, David D; Atkinson, John J; Seddon, Johanna J

Publication Date: 2020-08

Variant appearance in text: CFI: G119R

PubMed Link: 32908800

Variant Present in the following documents:

• Main text
• tvst-9-9-37.pdf

View BVdb publication page

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Properdin Modulates Complement Component Production in Stressed Human Primary Retinal Pigment Epithelium Cells.

Antioxidants (Basel, Switzerland)

Schäfer, Nicole N; Wolf, Hannah N HN; Enzbrenner, Anne A; Schikora, Juliane J; Reichenthaler, Maria M; Enzmann, Volker V; Pauly, Diana D

Publication Date: 2020-08-26

Variant appearance in text: rs141853578

PubMed Link: 32859013

Variant Present in the following documents:

• Main text

View BVdb publication page

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NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future.

Translational Vision Science & Technology

Wright, Charles C; Mazzucco, Anna E AE; Becker, Steven M SM; Sieving, Paul A PA; Tumminia, Santa J SJ

Publication Date: 2020-06

Variant appearance in text: N/A

PubMed Link: 32832254

Variant Present in the following documents:

View BVdb publication page

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Role of complement factor B rs4151667 (L9H) polymorphisms and its interactional role with CFH Y402H and C3 rs2230199 (R102G) risk variants in age-related macular degeneration: a case control study.

Bmc Ophthalmology

Roshanipour, Nasrin N; Laleh, Maryam Ghaffari MG; Bonyadi, Mortaza M; Bonyadi, Mohammad Hossein Jabbarpoor MHJ; Soheilian, Masoud M; Javadzadeh, Alireza A; Yaseri, Mehdi M

Publication Date: 2020-08-06

Variant appearance in text: CFI: G119R; rs141853578

PubMed Link: 32762675

Variant Present in the following documents:

• Main text
• 12886_2020_Article_1552.pdf

View BVdb publication page

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Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science

Hallam, Thomas M TM; Marchbank, Kevin J KJ; Harris, Claire L CL; Osmond, Clive C; Shuttleworth, Victoria G VG; Griffiths, Helen H; Cree, Angela J AJ; Kavanagh, David D; Lotery, Andrew J AJ

Publication Date: 2020-06-03

Variant appearance in text: N/A

PubMed Link: 32516404

Variant Present in the following documents:

View BVdb publication page

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Effect of rare coding variants in the CFI gene on Factor I expression levels.

Human Molecular Genetics

de Jong, Sarah S; Volokhina, Elena B EB; de Breuk, Anita A; Nilsson, Sara C SC; de Jong, Eiko K EK; van der Kar, Nicole C A J NCAJ; Bakker, Bjorn B; Hoyng, Carel B CB; van den Heuvel, Lambert P LP; Blom, Anna M AM; den Hollander, Anneke I AI

Publication Date: 2020-08-11

Variant appearance in text: CFI: Gly119Arg; rs141853578

PubMed Link: 32510551

Variant Present in the following documents:

• Main text
• supp_table_1_ddaa114.xlsx, sheet 1

View BVdb publication page

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Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis.

Bioscience Reports

Yu, Qianqian Q; Zhu, Jing J; Yao, Yong Y; Sun, Chao C

Publication Date: 2020-04-30

Variant appearance in text: rs141853578

PubMed Link: 32215612

Variant Present in the following documents:

• Main text
• bsr-40-bsr20200406.pdf

View BVdb publication page

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Complement Activation Levels Are Related to Disease Stage in AMD.

Investigative Ophthalmology & Visual Science

Heesterbeek, Thomas J TJ; Lechanteur, Yara T E YTE; Lorés-Motta, Laura L; Schick, Tina T; Daha, Mohamed R MR; Altay, Lebriz L; Liakopoulos, Sandra S; Smailhodzic, Dzenita D; den Hollander, Anneke I AI; Hoyng, Carel B CB; de Jong, Eiko K EK; Klevering, B Jeroen BJ

Publication Date: 2020-03-09

Variant appearance in text: rs141853578

PubMed Link: 32176267

Variant Present in the following documents:

• Main text
• iovs-61-3-18.pdf
• iovs-61-3-18_s001.pdf

View BVdb publication page

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The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients.

Journal Of Current Ophthalmology

Roshanipour, Nasrin N; Bonyadi, Morteza M; Jabbarpour Bonyadi, Mohammad Hossein MH; Soheilian, Masoud M

Publication Date: 2019-09

Variant appearance in text: rs141853578

PubMed Link: 31528764

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Prospective Application of Activity-Based Proteomic Profiling in Vision Research-Potential Unique Insights into Ocular Protease Biology and Pathology.

International Journal Of Molecular Sciences

Peng, Hui H; Hulleman, John D JD

Publication Date: 2019-08-08

Variant appearance in text: CFI: G119R; rs141853578

PubMed Link: 31398819

Variant Present in the following documents:

• Main text
• ijms-20-03855.pdf

View BVdb publication page

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New insight into the role of the complement in the most common types of retinopathy-current literature review.

International Journal Of Ophthalmology

Chrzanowska, Martyna M; Modrzejewska, Anna A; Modrzejewska, Monika M

Publication Date: 2018

Variant appearance in text: N/A

PubMed Link: 30450319

Variant Present in the following documents:

View BVdb publication page

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Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.

Biomed Research International

Maugeri, Andrea A; Barchitta, Martina M; Mazzone, Maria Grazia MG; Giuliano, Francesco F; Agodi, Antonella A

Publication Date: 2018

Variant appearance in text: CFI: G119R

PubMed Link: 30225264

Variant Present in the following documents:

• Main text
• BMRI2018-7532507.pdf

View BVdb publication page

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Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Clinical Genetics

Geerlings, M J MJ; Volokhina, E B EB; de Jong, E K EK; van de Kar, N N; Pauper, M M; Hoyng, C B CB; van den Heuvel, L P LP; den Hollander, A I AI

Publication Date: 2018-10

Variant appearance in text: CFI: Gly119Arg

PubMed Link: 29888403

Variant Present in the following documents:

• Main text
• CGE-94-330.pdf

View BVdb publication page

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Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration.

Molecular Diagnosis & Therapy

Lorés-Motta, Laura L; de Jong, Eiko K EK; den Hollander, Anneke I AI

Publication Date: 2018-06

Variant appearance in text: CFI: Gly119Arg

PubMed Link: 29700787

Variant Present in the following documents:

• Main text
• 40291_2018_Article_332.pdf

View BVdb publication page

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Geographic distribution of rare variants associated with age-related macular degeneration.

Molecular Vision

Geerlings, Maartje J MJ; Kersten, Eveline E; Groenewoud, Joannes M M JMM; Fritsche, Lars G LG; Hoyng, Carel B CB; de Jong, Eiko K EK; den Hollander, Anneke I AI

Publication Date: 2018

Variant appearance in text: CFI: Gly119Arg; rs141853578

PubMed Link: 29410599

Variant Present in the following documents:

• Main text
• mv-v24-75.pdf

View BVdb publication page

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