Publications:

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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine

Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC

Publication Date: 2022-06-16

Variant appearance in text: MEFV: G678E

PubMed Link: 35706047

Variant Present in the following documents:

• 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: MEFV: 2033G>A; Gly678Glu; rs104895088

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

View BVdb publication page

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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: G678E

PubMed Link: 33726481

Variant Present in the following documents:

• Main text
• turkjmedsci-51-1695.pdf

View BVdb publication page

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Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.

Nature Communications

Newell, Felicity F; Wilmott, James S JS; Johansson, Peter A PA; Nones, Katia K; Addala, Venkateswar V; Mukhopadhyay, Pamela P; Broit, Natasa N; Amato, Carol M CM; Van Gulick, Robert R; Kazakoff, Stephen H SH; Patch, Ann-Marie AM; Koufariotis, Lambros T LT; Lakis, Vanessa V; Leonard, Conrad C; Wood, Scott S; Holmes, Oliver O; Xu, Qinying Q; Lewis, Karl K; Medina, Theresa T; Gonzalez, Rene R; Saw, Robyn P M RPM; Spillane, Andrew J AJ; Stretch, Jonathan R JR; Rawson, Robert V RV; Ferguson, Peter M PM; Dodds, Tristan J TJ; Thompson, John F JF; Long, Georgina V GV; Levesque, Mitchell P MP; Robinson, William A WA; Pearson, John V JV; Mann, Graham J GJ; Scolyer, Richard A RA; Waddell, Nicola N; Hayward, Nicholas K NK

Publication Date: 2020-10-16

Variant appearance in text: MEFV: 2033G>A; Gly678Glu

PubMed Link: 33067454

Variant Present in the following documents:

• 41467_2020_18988_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: MEFV: G678E

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Turkish Journal Of Medical Sciences

Tufan, Abdurrahman A; Lachmann, Helen J HJ

Publication Date: 2020-11-03

Variant appearance in text: MEFV: G678E

PubMed Link: 32806879

Variant Present in the following documents:

• turkjmedsci-50-1591.pdf

View BVdb publication page

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Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.

The Journal Of Heart Valve Disease

Haskell, Gloria T GT; Jensen, Brian C BC; Skrzynia, Cecile C; Pulikkotil, Thelsa T; Tilley, Christian R CR; Lu, Yurong Y; Marchuk, Daniel S DS; Ann Samsa, Leigh L; Wilhelmsen, Kirk C KC; Lange, Ethan E; Patterson, Cam C; Evans, James P JP; Berg, Jonathan S JS

Publication Date: 2017-09

Variant appearance in text: MEFV: 2033G>A; Gly678Glu

PubMed Link: 29762926

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Gly678Glu

PubMed Link: 28421071

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Gly678Glu

PubMed Link: 28289585

Variant Present in the following documents:

• Main text
• bjmg-2016-0032.pdf

View BVdb publication page

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Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

Molecular Genetics & Genomic Medicine

Fujikura, Kohei K

Publication Date: 2015-07

Variant appearance in text: FMF: Gly678Glu; rs104895088

PubMed Link: 26247045

Variant Present in the following documents:

• Main text
• mgg30003-0272.pdf

View BVdb publication page

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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: MEFV: G678E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis.

Indian Journal Of Hematology & Blood Transfusion : An Official Journal Of Indian Society Of Hematology And Blood Transfusion

Keklik, Muzaffer M; Unal, Ali A; Sivgin, Serdar S; Kontas, Olgun O; Eroglu, Eray E; Yilmaz, Semih S; Kaynar, Leylagul L; Eser, Bulent B; Cetin, Mustafa M

Publication Date: 2014-09

Variant appearance in text: MEFV: G678E

PubMed Link: 25332561

Variant Present in the following documents:

• Main text

View BVdb publication page

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