Publications:

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Myocarditis-like Episodes in Patients with Arrhythmogenic Cardiomyopathy: A Systematic Review on the So-Called Hot-Phase of the Disease.

Biomolecules

Bariani, Riccardo R; Rigato, Ilaria I; Cipriani, Alberto A; Bueno Marinas, Maria M; Celeghin, Rudy R; Basso, Cristina C; Corrado, Domenico D; Pilichou, Kalliopi K; Bauce, Barbara B

Publication Date: 2022-09-19

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 36139162

Variant Present in the following documents:

• biomolecules-12-01324.pdf

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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GCN5 contributes to intracellular lipid accumulation in human primary cardiac stromal cells from patients affected by Arrhythmogenic cardiomyopathy.

Journal Of Cellular And Molecular Medicine

Volani, Chiara C; Pagliaro, Alessandra A; Rainer, Johannes J; Paglia, Giuseppe G; Porro, Benedetta B; Stadiotti, Ilaria I; Foco, Luisa L; Cogliati, Elisa E; Paolin, Adolfo A; Lagrasta, Costanza C; Frati, Caterina C; Corradini, Emilia E; Falco, Angela A; Matzinger, Theresa T; Picard, Anne A; Ermon, Benedetta B; Piazza, Silvano S; De Bortoli, Marzia M; Tondo, Claudio C; Philippe, Réginald R; Medici, Andrea A; Lavdas, Alexandros A AA; Blumer, Michael J F MJF; Pompilio, Giulio G; Sommariva, Elena E; Pramstaller, Peter P PP; Troppmair, Jakob J; Meraviglia, Viviana V; Rossini, Alessandra A

Publication Date: 2022-07

Variant appearance in text: DSG2: 1003A>G; T335A

PubMed Link: 35712781

Variant Present in the following documents:

• Main text
• JCMM-26-3687.pdf

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Analysis of buccal mucosa as a prognostic tool in children with arrhythmogenic cardiomyopathy.

Progress In Pediatric Cardiology

Bueno-Beti, Carlos C; Field, Ella E; Tsatsopoulou, Adalena A; Perry, Gregory G; Sheppard, Mary N MN; Behr, Elijah R ER; Saffitz, Jeffrey E JE; Kaski, Juan Pablo JP; Asimaki, Angeliki A

Publication Date: 2022-03

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 35300203

Variant Present in the following documents:

• Main text
• main.pdf

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Genetic predisposition study of heart failure and its association with cardiomyopathy.

The Egyptian Heart Journal : (Ehj) : Official Bulletin Of The Egyptian Society Of Cardiology

Kaviarasan, Vaishak V; Mohammed, Vajagathali V; Veerabathiran, Ramakrishnan R

Publication Date: 2022-01-21

Variant appearance in text: DSG2: Thr335Ala

PubMed Link: 35061126

Variant Present in the following documents:

• Main text
• 43044_2022_Article_240.pdf

View BVdb publication page

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Genetic predisposition study of heart failure and its association with cardiomyopathy.

The Egyptian Heart Journal : (Ehj) : Official Bulletin Of The Egyptian Society Of Cardiology

Kaviarasan, Vaishak V; Mohammed, Vajagathali V; Veerabathiran, Ramakrishnan R

Publication Date: 2022-01-21

Variant appearance in text: DSG2: Thr335Ala

PubMed Link: 35061126

Variant Present in the following documents:

• Main text
• 43044_2022_Article_240.pdf

View BVdb publication page

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Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric Patient.

Jacc. Case Reports

Roudijk, Rob W RW; Evertz, Reinder R; Teske, Arco J AJ; Marcelis, Carlo C; Bosboom, Dennis D; Velthuis, Birgitta K BK; Udink Ten Cate, Floris E A FEA; Te Riele, Anneline S J M ASJM

Publication Date: 2020-06

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 34317382

Variant Present in the following documents:

• Main text
• main.pdf

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Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance.

Journal Of Clinical Medicine

Iglesias, Mercedes M; Ripoll-Vera, Tomas T; Perez-Luengo, Consuelo C; García, Ana Belen AB; Moyano, Susana S; Canos, Juan Carlos JC; Borondo, Juan Carlos JC; Alvarez, Jorge J; Heine-Suñer, Damian D; Barcelo, Bernardino B

Publication Date: 2021-04-21

Variant appearance in text: DSG2: Thr335Ala

PubMed Link: 33919104

Variant Present in the following documents:

• Main text

View BVdb publication page

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Excess TGF-β1 Drives Cardiac Mesenchymal Stromal Cells to a Pro-Fibrotic Commitment in Arrhythmogenic Cardiomyopathy.

International Journal Of Molecular Sciences

Maione, Angela Serena AS; Stadiotti, Ilaria I; Pilato, Chiara Assunta CA; Perrucci, Gianluca Lorenzo GL; Saverio, Valentina V; Catto, Valentina V; Vettor, Giulia G; Casella, Michela M; Guarino, Anna A; Polvani, Gianluca G; Pompilio, Giulio G; Sommariva, Elena E

Publication Date: 2021-03-06

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 33800912

Variant Present in the following documents:

• ijms-22-02673-s001.pdf

View BVdb publication page

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.

Journal Of Personalized Medicine

Vallverdú-Prats, Marta M; Alcalde, Mireia M; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Fernandez-Falgueras, Anna A; Coll, Mónica M; Pérez-Serra, Alexandra A; Puigmulé, Marta M; Iglesias, Anna A; Fiol, Victoria V; Ferrer-Costa, Carles C; Olmo, Bernat Del BD; Picó, Ferran F; Lopez, Laura L; Jordà, Paloma P; García-Álvarez, Ana A; Llano, Coloma Tirón de CT; Toro, Rocío R; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2021-02-26

Variant appearance in text: DSG2: 1003A>G; Thr335Ala; rs191564916

PubMed Link: 33652588

Variant Present in the following documents:

• Main text
• jpm-11-00162.pdf

View BVdb publication page

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Outcomes and management of arrhythmogenic right ventricular cardiomyopathy in pregnancy: a case report.

European Heart Journal. Case Reports

Schiavone, Marco M; Calcagnino, Margherita M; Mazzanti, Andrea A; Bonanomi, Carla C

Publication Date: 2019-12

Variant appearance in text: DSG2: Thr335Ala

PubMed Link: 31911980

Variant Present in the following documents:

• ytz208.pdf

View BVdb publication page

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A multiplex PCR strategy to screen for known mutations in families with sudden cardiac death burden.

Journal Of Biological Methods

Duong, Giang G; Helms, Thomas M TM; Karle, Christoph A CA

Publication Date: 2017

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 31453232

Variant Present in the following documents:

• Main text
• jbm-4-3-e78.pdf

View BVdb publication page

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Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents.

Journal Of The American College Of Cardiology

DeWitt, Elizabeth S ES; Chandler, Stephanie F SF; Hylind, Robyn J RJ; Beausejour Ladouceur, Virginie V; Blume, Elizabeth D ED; VanderPluym, Christina C; Powell, Andrew J AJ; Fynn-Thompson, Francis F; Roberts, Amy E AE; Sanders, Stephen P SP; Bezzerides, Vassilios V; Lakdawala, Neal K NK; MacRae, Calum A CA; Abrams, Dominic J DJ

Publication Date: 2019-07-23

Variant appearance in text: DSG2: 1003A>G

PubMed Link: 31319917

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: DSG2: 1003A>G; Thr335Ala; rs191564916

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: DSG2: T335A; rs191564916

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.

European Journal Of Human Genetics : Ejhg

Hall, Charlotte L CL; Sutanto, Henry H; Dalageorgou, Chrysoula C; McKenna, William John WJ; Syrris, Petros P; Futema, Marta M

Publication Date: 2018-09

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 29802319

Variant Present in the following documents:

• Main text
• 41431_2018_Article_169.pdf

View BVdb publication page

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Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.

Bmc Medical Genetics

Qadri, Sami S; Anttonen, Olli O; Viikilä, Juho J; Seppälä, Eija H EH; Myllykangas, Samuel S; Alastalo, Tero-Pekka TP; Holmström, Miia M; Heliö, Tiina T; Koskenvuo, Juha W JW

Publication Date: 2017-08-17

Variant appearance in text: DSG2: 1003A>G; Thr335Ala; rs191564916

PubMed Link: 28818065

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Plos One

Fedida, Joel J; Fressart, Veronique V; Charron, Philippe P; Surget, Elodie E; Hery, Tiphaine T; Richard, Pascale P; Donal, Erwan E; Keren, Boris B; Duthoit, Guillaume G; Hidden-Lucet, Françoise F; Villard, Eric E; Gandjbakhch, Estelle E

Publication Date: 2017

Variant appearance in text: DSG2: Thr335Ala

PubMed Link: 28767663

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.

Journal Of The American Heart Association

Orgeron, Gabriela M GM; James, Cynthia A CA; Te Riele, Anneline A; Tichnell, Crystal C; Murray, Brittney B; Bhonsale, Aditya A; Kamel, Ihab R IR; Zimmerman, Stephan L SL; Judge, Daniel P DP; Crosson, Jane J; Tandri, Harikrishna H; Calkins, Hugh H

Publication Date: 2017-06-06

Variant appearance in text: DSG2: Thr335Ala

PubMed Link: 28588093

Variant Present in the following documents:

• JAH3-6-e006242.pdf
• JAH3-6-e006242-s001.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: DSG2: 1003A>G; T335A; rs191564916

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: DSG2: 1003A>G; T335A

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs191564916

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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The UK10K project identifies rare variants in health and disease.

Nature

, ; Walter, Klaudia K; Min, Josine L JL; Huang, Jie J; Crooks, Lucy L; Memari, Yasin Y; McCarthy, Shane S; Perry, John R B JR; Xu, ChangJiang C; Futema, Marta M; Lawson, Daniel D; Iotchkova, Valentina V; Schiffels, Stephan S; Hendricks, Audrey E AE; Danecek, Petr P; Li, Rui R; Floyd, James J; Wain, Louise V LV; Barroso, Inês I; Humphries, Steve E SE; Hurles, Matthew E ME; Zeggini, Eleftheria E; Barrett, Jeffrey C JC; Plagnol, Vincent V; Richards, J Brent JB; Greenwood, Celia M T CM; Timpson, Nicholas J NJ; Durbin, Richard R; Soranzo, Nicole N

Publication Date: 2015-10-01

Variant appearance in text: DSG2: T335A; rs191564916

PubMed Link: 26367797

Variant Present in the following documents:

• 41586_2015_BFnature14962_MOESM15_ESM.xlsx, sheet 16

View BVdb publication page

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Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.

Plos One

Allegue, Catarina C; Coll, Mònica M; Mates, Jesus J; Campuzano, Oscar O; Iglesias, Anna A; Sobrino, Beatriz B; Brion, Maria M; Amigo, Jorge J; Carracedo, Angel A; Brugada, Pedro P; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2015

Variant appearance in text: DSG2: 1003A>G; Thr335Ala; rs191564916

PubMed Link: 26230511

Variant Present in the following documents:

• Main text
• pone.0133037.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: DSG2: T335A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Dynamic conduction and repolarisation changes in early arrhythmogenic right ventricular cardiomyopathy versus benign outflow tract ectopy demonstrated by high density mapping & paced surface ECG analysis.

Plos One

Finlay, Malcolm C MC; Ahmed, Akbar K AK; Sugrue, Alan A; Bhar-Amato, Justine J; Quarta, Giovanni G; Pantazis, Antonis A; Ciaccio, Edward J EJ; Syrris, Petros P; Sen-Chowdhry, Srijita S; Ben-Simon, Ron R; Chow, Anthony W AW; Lowe, Martin D MD; Segal, Oliver R OR; McKenna, William J WJ; Lambiase, Pier D PD

Publication Date: 2014

Variant appearance in text: DSG2: T335A

PubMed Link: 25014132

Variant Present in the following documents:

• Main text
• pone.0099125.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: DSG2: T335A

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Mechanistic basis of desmosome-targeted diseases.

Journal Of Molecular Biology

Al-Jassar, Caezar C; Bikker, Hennie H; Overduin, Michael M; Chidgey, Martyn M

Publication Date: 2013-11-01

Variant appearance in text: DSG2: T335A

PubMed Link: 23911551

Variant Present in the following documents:

• Main text

View BVdb publication page

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New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

European Journal Of Human Genetics : Ejhg

Andreasen, Charlotte C; Nielsen, Jonas B JB; Refsgaard, Lena L; Holst, Anders G AG; Christensen, Alex H AH; Andreasen, Laura L; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS

Publication Date: 2013-09

Variant appearance in text: DSG2: T335A

PubMed Link: 23299917

Variant Present in the following documents:

• Main text
• ejhg2012283a.pdf

View BVdb publication page

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Imaging of programmed cell death in arrhythmogenic right ventricle cardiomyopathy/dysplasia.

European Journal Of Nuclear Medicine And Molecular Imaging

Campian, Maria E ME; Tan, Hanno L HL; van Moerkerken, Astrid F AF; Tukkie, Raymond R; van Eck-Smit, Berthe L F BL; Verberne, Hein J HJ

Publication Date: 2011-08

Variant appearance in text: DSG2: T335A

PubMed Link: 21553091

Variant Present in the following documents:

• Main text
• 259_2011_Article_1817.pdf

View BVdb publication page

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Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Journal Of Cardiovascular Translational Research

Tan, Boon Yew BY; Jain, Rahul R; den Haan, A Dénise AD; Chen, Yan Y; Dalal, Darshan D; Tandri, Harikrishna H; Amat-Alarcon, Nuria N; Daly, Amy A; Tichnell, Crystal C; James, Cynthia C; Calkins, Hugh H; Judge, Daniel P DP

Publication Date: 2010-12

Variant appearance in text: DSG2: T335A

PubMed Link: 20857253

Variant Present in the following documents:

• Main text

View BVdb publication page

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Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

Journal Of The American College Of Cardiology

Xu, Tianhong T; Yang, Zhao Z; Vatta, Matteo M; Rampazzo, Alessandra A; Beffagna, Giorgia G; Pilichou, Kalliopi K; Pillichou, Kalliopi K; Scherer, Steven E SE; Saffitz, Jeffrey J; Kravitz, Joshua J; Zareba, Wojciech W; Danieli, Gian Antonio GA; Lorenzon, Alessandra A; Nava, Andrea A; Bauce, Barbara B; Thiene, Gaetano G; Basso, Cristina C; Calkins, Hugh H; Gear, Kathy K; Marcus, Frank F; Towbin, Jeffrey A JA; ,

Publication Date: 2010-02-09

Variant appearance in text: DSG2: T335A

PubMed Link: 20152563

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Circulation. Cardiovascular Genetics

den Haan, A Dénise AD; Tan, Boon Yew BY; Zikusoka, Michelle N MN; Lladó, Laura Ibañez LI; Jain, Rahul R; Daly, Amy A; Tichnell, Crystal C; James, Cynthia C; Amat-Alarcon, Nuria N; Abraham, Theodore T; Russell, Stuart D SD; Bluemke, David A DA; Calkins, Hugh H; Dalal, Darshan D; Judge, Daniel P DP

Publication Date: 2009-10

Variant appearance in text: DSG2: 1003A>G; Thr335Ala

PubMed Link: 20031617

Variant Present in the following documents:

• Main text

View BVdb publication page

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