MEFV c.1437C>G ;(p.F479L)

Variant ID: 16-3297166-G-C

NM_000243.2(MEFV):c.1437C>G;(p.F479L)

This variant was identified in 76 publications

View GRCh38 version.




Publications:


Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.

Cell Death & Disease
Chirita, Daria D; Bronnec, Pauline P; Magnotti, Flora F; Dalmon, Sarah S; Martin, Amandine A; Popoff, Michel M; Gerfaud-Valentin, Mathieu M; Sève, Pascal P; Belot, Alexandre A; Contis, Anne A; Duquesne, Agnes A; Nocturne, Gaetane G; Lemelle, Irene I; Georgin-Lavialle, Sophie S; Boursier, Guilaine G; Touitou, Isabelle I; Jamilloux, Yvan Y; Henry, Thomas T
Publication Date: 2023-03-25

Variant appearance in text: FMF: F479L
PubMed Link: 36966139
Variant Present in the following documents:
  • Main text
  • 41419_2023_Article_5745.pdf
View BVdb publication page



Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study.

Iranian Journal Of Medical Sciences
Salehzadeh, Farhad F; Pourfarzi, Farhad F; Molatefi, Rasool R; Davarnia, Behzad B; Shahbazfar, Ehsan E; Ahmadabadi, Farzad F
Publication Date: 2023-01

Variant appearance in text: MEFV: F479L
PubMed Link: 36688196
Variant Present in the following documents:
  • Main text
  • IJMS-48-43.pdf
View BVdb publication page



Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients.

Current Issues In Molecular Biology
Zekry, May E ME; Sallam, Al-Aliaa M AM; AbdelHamid, Sherihan G SG; Zarouk, Waheba A WA; El-Bassyouni, Hala T HT; El-Mesallamy, Hala O HO
Publication Date: 2023-01-13

Variant appearance in text: MEFV: F479L
PubMed Link: 36661534
Variant Present in the following documents:
  • Main text
  • cimb-45-00048.pdf
View BVdb publication page



Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID-19 pandemic.

International Journal Of Rheumatic Diseases
Akcan, Mehmet Berkay MB; Albuz, Burcu B; Ozdemir, Ozturk O; Silan, Fatma F
Publication Date: 2022-12-08

Variant appearance in text: MEFV: F479L
PubMed Link: 36480443
Variant Present in the following documents:
  • Main text
  • APL-9999-0.pdf
View BVdb publication page



Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.

Children (Basel, Switzerland)
Omran, Ahmed A; Abdelrahman, Ahmed A; Mohamed, Yasmine Gabr YG; Abdalla, Mohamed Osama MO; Abdel-Hamid, Eman R ER; Elfiky, Samar S
Publication Date: 2022-10-29

Variant appearance in text: MEFV: F479L
PubMed Link: 36360382
Variant Present in the following documents:
  • Main text
  • children-09-01654.pdf
View BVdb publication page



Assessment of Surrogate Markers for Cardiovascular Disease in Familial Mediterranean Fever-Related Amyloidosis Patients Homozygous for M694V Mutation in MEFV Gene.

Life (Basel, Switzerland)
Sahin, Sezgin S; Romano, Micol M; Guzel, Ferhat F; Piskin, David D; Poddighe, Dimitri D; Sezer, Siren S; Kasapcopur, Ozgur O; Appleton, C Thomas CT; Yilmaz, Ilker I; Demirkaya, Erkan E
Publication Date: 2022-04-25

Variant appearance in text: MEFV: F479L
PubMed Link: 35629299
Variant Present in the following documents:
  • Main text
  • life-12-00631.pdf
View BVdb publication page



Prediction of More Severe MEFV Gene Mutations in Childhood.

Turkish Archives Of Pediatrics
Güneş-Yılmaz, Seviye S; Kasap-Demir, Belde B; Soyaltın, Eren E; Erfidan, Gökçen G; Özdemir-Şimşek, Özgür Ö; Arslansoyu-Çamlar, Seçil S; Alaygut, Demet D; Mutlubaş, Fatma F
Publication Date: 2021-11

Variant appearance in text: FMF: F479L
PubMed Link: 35110061
Variant Present in the following documents:
  • Main text
  • tap-56-6-610.pdf
View BVdb publication page



Effectiveness of Canakinumab Treatment in Colchicine Resistant Familial Mediterranean Fever Cases.

Frontiers In Pediatrics
Yücel, Burcu Bozkaya BB; Aydog, Ozlem O; Nalcacioglu, Hulya H; Yılmaz, Ayşegül A
Publication Date: 2021

Variant appearance in text: MEFV: F479L
PubMed Link: 34568239
Variant Present in the following documents:
  • Main text
  • fped-09-710501.pdf
View BVdb publication page



Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever.

Journal Of Clinical Medicine
Arici, Zehra Serap ZS; Romano, Micol M; Piskin, David D; Guzel, Ferhat F; Sahin, Sezgin S; Berard, Roberta A RA; Yilmaz, Mahmut I MI; Demirkaya, Erkan E
Publication Date: 2021-08-10

Variant appearance in text: MEFV: F479L
PubMed Link: 34441808
Variant Present in the following documents:
  • Main text
  • jcm-10-03511.pdf
View BVdb publication page



Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

Turkish Journal Of Medical Sciences
Sarı, Alper A; Bodakçi, Erdal E; Armağan, Berkan B; Satış, Hasan H; Ataş, Nuh N; Yaşar Bilge, Nazife Şule NŞ; Bilici Salman, Reyhan R; Yardımcı, Gözde Kübra GK; Babaoğlu, Hakan H; Kılıç, Levent L; Öztürk, Mehmet Akif MA; Haznedaroğlu, Şeminur Ş; Göker, Berna B; Kalyoncu, Umut U; Kaşifoğlu, Timuçin T; Tufan, Abdurrahman A
Publication Date: 2021-08-30

Variant appearance in text: MEFV: F479L
PubMed Link: 33726481
Variant Present in the following documents:
  • Main text
  • turkjmedsci-51-1695.pdf
View BVdb publication page



Evaluation of S100A12 protein levels in children with familial Mediterranean fever

Turkish Journal Of Medical Sciences
Türkmenoğlu, Yelda Y; Güney, Elif E; Bezen, Diğdem D; İrdem, Ahmet A; Ertürk, Biray B; Dursun, Hasan H
Publication Date: 2021-06-28

Variant appearance in text: FMF: F479L
PubMed Link: 33576586
Variant Present in the following documents:
  • Main text
  • turkjmedsci-51-1396.pdf
View BVdb publication page



Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Jayasinghe, Kushani K; Stark, Zornitza Z; Kerr, Peter G PG; Gaff, Clara C; Martyn, Melissa M; Whitlam, John J; Creighton, Belinda B; Donaldson, Elizabeth E; Hunter, Matthew M; Jarmolowicz, Anna A; Johnstone, Lilian L; Krzesinski, Emma E; Lunke, Sebastian S; Lynch, Elly E; Nicholls, Kathleen K; Patel, Chirag C; Prawer, Yael Y; Ryan, Jessica J; See, Emily J EJ; Talbot, Andrew A; Trainer, Alison A; Tytherleigh, Rigan R; Valente, Giulia G; Wallis, Mathew M; Wardrop, Louise L; West, Kirsty H KH; White, Susan M SM; Wilkins, Ella E; Mallett, Andrew J AJ; Quinlan, Catherine C
Publication Date: 2021-01

Variant appearance in text: MEFV: 1437C>G; Phe479Leu
PubMed Link: 32939031
Variant Present in the following documents:
  • 41436_2020_963_MOESM1_ESM.pdf
View BVdb publication page



Comparison of Different Pharmaceutical Preparations of Colchicine in Children with Familial Mediterranean Fever: Is Colchicine Opocalcium a Good Alternative?

Balkan Medical Journal
Türkuçar, Serkan S; Otar Yener, Gülçin G; Adıgüzel Dundar, Hatice H; Acari, Ceyhun C; Makay, Balahan B; Yüksel, Selçuk S; Ünsal, Erbil E
Publication Date: 2021-01

Variant appearance in text: FMF: F479L
PubMed Link: 32921628
Variant Present in the following documents:
  • bmj-38-1-29.pdf
View BVdb publication page



Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.

Medical Sciences (Basel, Switzerland)
El Roz, Ali A; Ghssein, Ghassan G; Khalaf, Batoul B; Fardoun, Taher T; Ibrahim, José-Noel JN
Publication Date: 2020-08-17

Variant appearance in text: FMF: F479L
PubMed Link: 32824452
Variant Present in the following documents:
  • Main text
  • medsci-08-00035.pdf
View BVdb publication page



Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine.

Mediterranean Journal Of Rheumatology
Talaat, Hala S HS; Sheba, Maha F MF; Mohammed, Rehab H RH; Gomaa, Mohamed Ali MA; Rifaei, Nihal El NE; Ibrahim, Mohamed Farouk M MFM
Publication Date: 2020-06

Variant appearance in text: MEFV: F479L
PubMed Link: 32676558
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coexisting Diseases in Patients with Familial Mediterranean Fever.

Open Access Rheumatology : Research And Reviews
Salehzadeh, Farhad F; Enteshari Moghaddam, Afsaneh A
Publication Date: 2020

Variant appearance in text: MEFV: F479L
PubMed Link: 32547265
Variant Present in the following documents:
  • Main text
  • oarrr-12-65.pdf
View BVdb publication page



Familial Mediterranean fever in Jordanian Children: single centre experience.

Mediterranean Journal Of Rheumatology
Alzyoud, Raed R; Alsweiti, Motasem M; Maittah, Hiba H; Zreqat, Ehab E; Alwahadneh, Adel A; Abu-Shukair, Mohammed M; Habahbeh, Lana L; Mutereen, Mohammed M
Publication Date: 2018-12

Variant appearance in text: MEFV: F479L
PubMed Link: 32185329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019

Variant appearance in text: MEFV: 1437C>G; rs104895083
PubMed Link: 32082075
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study.

Open Access Rheumatology : Research And Reviews
Salehzadeh, Farhad F; Azami, Ahad A; Motezarre, Maryam M; Nematdoust Haghi, Roghayeh R; Ahmadabadi, Farzad F
Publication Date: 2020

Variant appearance in text: FMF: F479L
PubMed Link: 32021503
Variant Present in the following documents:
  • Main text
  • oarrr-12-15.pdf
View BVdb publication page



Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics
Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P
Publication Date: 2019

Variant appearance in text: MEFV: 1437C>G; Phe479Leu
PubMed Link: 31832098
Variant Present in the following documents:
  • 13039_2019_459_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.

Annals Of Saudi Medicine
Yildirim, Malik Ejder ME; Kurtulgan, Hande Kucuk HK; Ozdemir, Ozturk O; Kilicgun, Hasan H; Aydemir, Didem S DS; Baser, Burak B; Sezgin, Ilhan I
Publication Date: 2019

Variant appearance in text: MEFV: F479L
PubMed Link: 31804137
Variant Present in the following documents:
  • Main text
View BVdb publication page



Severe FMF Presentation with Rare Association of MEFV Variants (p.Pro369Ser/p.Glu148Gln).

European Journal Of Case Reports In Internal Medicine
El Alaoui, Kenza K; Papaleo, Alberto A
Publication Date: 2019

Variant appearance in text: MEFV: F479L
PubMed Link: 31742197
Variant Present in the following documents:
  • Main text
  • 1216-1-9409-1-10-20191004.pdf
View BVdb publication page



The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey.

The Eurasian Journal Of Medicine
Celep, Gokce G; Durmaz, Zeynep Hulya ZH; Erdogan, Yalciner Y; Akpinar, Seviye S; Kaya, Saban Abdullah SA; Guckan, Rıdvan R
Publication Date: 2019-10

Variant appearance in text: FMF: F479L
PubMed Link: 31692716
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammasomes in the pathophysiology of autoinflammatory syndromes.

Journal Of Leukocyte Biology
Tartey, Sarang S; Kanneganti, Thirumala-Devi TD
Publication Date: 2020-03

Variant appearance in text: FMF: F479L
PubMed Link: 31608507
Variant Present in the following documents:
  • Main text
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: MEFV: 1437C>G; rs104895083
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea.

Genetics Research International
Salehzadeh, Farhad F; Sharghi, Afshan A; Motayayagheni, Atena A; Hosseini Asl, Saied S; Mottaghi, Mahsa M; Sarkhanloo, Sepehr S
Publication Date: 2019

Variant appearance in text: MEFV: F479L
PubMed Link: 31531243
Variant Present in the following documents:
  • Main text
  • GRI2019-6418759.pdf
View BVdb publication page



Kawasaki disease and familial mediterranean fever gene mutations, is there any link?

Open Access Rheumatology : Research And Reviews
Salehzadeh, Farhad F; Mirzarahimi, Mehrdad M; Hosseini Asl, Saied S; Nematdoust Haghi, Roghayeh R
Publication Date: 2019

Variant appearance in text: MEFV: F479L
PubMed Link: 31191052
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy.

Medical Archives (Sarajevo, Bosnia And Herzegovina)
Salehzadeh, Farhad F; Mohammadikebar, Yusef Y; Haghi, Roghayeh Nematdoust RN; Asl, Saeid Hosseini SH; Enteshary, Afsaneh A
Publication Date: 2019-02

Variant appearance in text: MEFV: F479L
PubMed Link: 31097862
Variant Present in the following documents:
  • Main text
  • medarch-73-55.pdf
View BVdb publication page



Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship?

Case Reports In Rheumatology
Salehzadeh, Farhad F; Anari, Hassan H; Sarkhanloo, Sepehr S
Publication Date: 2019

Variant appearance in text: MEFV: F479L
PubMed Link: 31049240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study.

International Journal Of Inflammation
Mansour, Amal R AR; El-Shayeb, Ayman A; El Habachi, Nihal N; Khodair, Mohamad A MA; Elwazzan, Doaa D; Abdeen, Nermeen N; Said, Marwa M; Ebaid, Riham R; ElShahawy, Noha N; Seif, Amr A; Zaki, Nadia N
Publication Date: 2019

Variant appearance in text: FMF: F479L
PubMed Link: 30915208
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia

Turkish Journal Of Medical Sciences
Yaşar Bilge, Şule Ş; Sarı, İsmail İ; Solmaz, Dİlek D; Şenel, Soner S; Emmungil, Hakan H; Kılıç, Levent L; Yılmaz Öner, Sibel S; Yıldız, Fatih F; Yılmaz, Sedat S; Ersözlü Bozkırlı, Duygu D; Aydın Tufan, Müge M; Yılmaz, Sema S; Yazısız, Veli V; Pehlivan, Yavuz Y; Bes, Cemal C; Yıldırım Çetin, Gözde G; Erten, Şükran Ş; Gönüllü, Emel E; Şahin, Fezan F; Akar, Servet S; Aksu, Kenan K; Kalyoncu, Umut U; Direskeneli, Haner H; Erken, Eren E; Kısacık, Bünyamin B; Sayarlıoğlu, Mehmet M; Çınar, Muhammed M; Kaşifoğlu, Timuçin T
Publication Date: 2019-04-18

Variant appearance in text: MEFV: F479L
PubMed Link: 30887796
Variant Present in the following documents:
  • turkjmedsci-49-472.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: MEFV: F479L; rs104895083
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

International Journal Of Inflammation
Shahbaznejad, Leila L; Raeeskarami, Sayed-Reza SR; Assari, Raheleh R; Shakoori, Abbas A; Azhideh, Hamidreza H; Aghighi, Yahya Y; Tahghighi, Fatemeh F; Ziaee, Vahid V
Publication Date: 2018

Variant appearance in text: MEFV: F479L
PubMed Link: 30402217
Variant Present in the following documents:
  • Main text
  • IJI2018-1902791.pdf
View BVdb publication page



Is there any relationship between human foamy virus infections and familial Mediterranean fever?

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences
Yüce, Melek M; Bagci, Hasan H; Cengiz, Kuddusi K
Publication Date: 2018

Variant appearance in text: MEFV: F479L
PubMed Link: 30294346
Variant Present in the following documents:
  • Main text
  • JRMS-23-78.pdf
View BVdb publication page



A delayed diagnosis: recurrent fever and beta thalassaemia.

Bmj Case Reports
Samarkos, Michael M; Mantzourani, Marina M; Nika, Christina C; Kalotychou, Vasiliki V
Publication Date: 2018-09-30

Variant appearance in text: MEFV: F479L
PubMed Link: 30275024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of Mediterranean FeVer Gene Mutations in Turkish Cypriot Population.

Archives Of Rheumatology
Galip, Nilüfer N; Dalkan, Ceyhun C; Terali, Ayşe A; Çobanoğlu, Nazan N; Ülgenalp, Ayfer A; Bahçeciler, Nerin N; Kavukçu, Salih S
Publication Date: 2017-03

Variant appearance in text: MEFV: F479L
PubMed Link: 29901013
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

Journal Of Clinical Medicine
Gumus, Evren E
Publication Date: 2018-05-07

Variant appearance in text: FMF: F479L
PubMed Link: 29735907
Variant Present in the following documents:
  • Main text
  • jcm-07-00105.pdf
View BVdb publication page



Increased psoriasis frequency in patients with familial Mediterranean fever.

Upsala Journal Of Medical Sciences
Erden, Abdulsamet A; Batu, Ezgi Deniz ED; Seyhoğlu, Emrah E; Sari, Alper A; Sönmez, Hafize Emine HE; Armagan, Berkan B; Demir, Selcan S; Bilgin, Emre E; Kilic, Levent L; Karadag, Omer O; Akdogan, Ali A; Bilginer, Yelda Y; Ertenli, Ihsan I; Kiraz, Sedat S; Apras Bilgen, Sule S; Kalyoncu, Umut U
Publication Date: 2018-03

Variant appearance in text: FMF: F479L
PubMed Link: 29363386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.

Molecular Genetics & Genomic Medicine
Moradian, Mike M MM; Babikyan, Davit D; Banoian, Dion D; Hayrapetyan, Hasmik H; Manvelyan, Hakob H; Avanesian, Nareh N; Sarkisian, Tamara T
Publication Date: 2017-11

Variant appearance in text: MEFV: 1437C>G; rs104895083
PubMed Link: 29178647
Variant Present in the following documents:
  • Main text
  • MGG3-5-742.pdf
View BVdb publication page



Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: MEFV: Phe479Leu
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.

Frontiers In Immunology
Özen, Seza S; Batu, Ezgi Deniz ED; Demir, Selcan S
Publication Date: 2017

Variant appearance in text: MEFV: F479L
PubMed Link: 28386255
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Analysis of Southwestern Iranian Patients with Familial Mediterranean Fever.

Reports Of Biochemistry & Molecular Biology
Haghighat, Mahmoud M; Moghtaderi, Mozhgan M; Farjadian, Shirin S
Publication Date: 2017-04

Variant appearance in text: MEFV: F479L
PubMed Link: 28367474
Variant Present in the following documents:
  • Main text
View BVdb publication page



The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population.

Balkan Journal Of Medical Genetics : Bjmg
Battal, F F; Silan, F F; Topaloğlu, N N; Aylanç, H H; Yıldırım, Ş Ş; Köksal Binnetoğlu, F F; Tekin, M M; Kaymaz, N N; Ozdemir, O O
Publication Date: 2016-12-01

Variant appearance in text: FMF: Phe479Leu
PubMed Link: 28289585
Variant Present in the following documents:
  • Main text
View BVdb publication page



The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases.

Frontiers In Immunology
de Torre-Minguela, Carlos C; Mesa Del Castillo, Pablo P; Pelegrín, Pablo P
Publication Date: 2017

Variant appearance in text: FMF: F479L
PubMed Link: 28191008
Variant Present in the following documents:
  • Main text
  • fimmu-08-00043.pdf
View BVdb publication page