MYH7 c.4066G>A ;(p.E1356K)

Variant ID: 14-23887522-C-T

NM_000257.2(MYH7):c.4066G>A;(p.E1356K)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022

Variant appearance in text: MYH7: 4066G>A; E1356K
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Biomolecules
Mazzaccara, Cristina C; Lombardi, Raffaella R; Mirra, Bruno B; Barretta, Ferdinando F; Esposito, Maria Valeria MV; Uomo, Fabiana F; Caiazza, Martina M; Monda, Emanuele E; Losi, Maria Angela MA; Limongelli, Giuseppe G; D'Argenio, Valeria V; Frisso, Giulia G
Publication Date: 2022-10-03

Variant appearance in text: MYH7: 4066G>A; Glu1356Lys; rs727503246
PubMed Link: 36291626
Variant Present in the following documents:
  • biomolecules-12-01417.pdf
View BVdb publication page



Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine
Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW
Publication Date: 2022-10-20

Variant appearance in text: MYH7: Glu1356Lys; rs727503246
PubMed Link: 36264615
Variant Present in the following documents:
  • hcg-15-e003704-s001.pdf
View BVdb publication page



Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Journal Of Cardiovascular Development And Disease
Pezzoli, Laura L; Pezzani, Lidia L; Bonanomi, Ezio E; Marrone, Chiara C; Scatigno, Agnese A; Cereda, Anna A; Bedeschi, Maria Francesca MF; Selicorni, Angelo A; Gasperini, Serena S; Bini, Paolo P; Maitz, Silvia S; Maccioni, Carla C; Pedron, Cristina C; Colombo, Lorenzo L; Marchetti, Daniela D; Bellini, Matteo M; Lincesso, Anna Rita AR; Perego, Loredana L; Pingue, Monica M; Della Malva, Nunzia N; Mangili, Giovanna G; Ferrazzi, Paolo P; Iascone, Maria M
Publication Date: 2021-12-21

Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
PubMed Link: 35050212
Variant Present in the following documents:
  • Main text
  • jcdd-09-00002.pdf
View BVdb publication page



Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Journal Of Cardiovascular Development And Disease
Pezzoli, Laura L; Pezzani, Lidia L; Bonanomi, Ezio E; Marrone, Chiara C; Scatigno, Agnese A; Cereda, Anna A; Bedeschi, Maria Francesca MF; Selicorni, Angelo A; Gasperini, Serena S; Bini, Paolo P; Maitz, Silvia S; Maccioni, Carla C; Pedron, Cristina C; Colombo, Lorenzo L; Marchetti, Daniela D; Bellini, Matteo M; Lincesso, Anna Rita AR; Perego, Loredana L; Pingue, Monica M; Della Malva, Nunzia N; Mangili, Giovanna G; Ferrazzi, Paolo P; Iascone, Maria M
Publication Date: 2021-12-21

Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
PubMed Link: 35050212
Variant Present in the following documents:
  • Main text
  • jcdd-09-00002.pdf
View BVdb publication page



Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal
Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY
Publication Date: 2021-05-21

Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
PubMed Link: 33769460
Variant Present in the following documents:
  • ehab148_supplementary_appendix.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MYH7: 4066G>A; E1356K
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.

European Journal Of Human Genetics : Ejhg
Ormondroyd, Elizabeth E; Harper, Andrew R AR; Thomson, Kate L KL; Mackley, Michael P MP; Martin, Jennifer J; Penkett, Christopher J CJ; Salatino, Silvia S; Stark, Hannah H; Stephens, Jonathan J; Watkins, Hugh H
Publication Date: 2020-11

Variant appearance in text: MYH7: Glu1356Lys
PubMed Link: 32686758
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_694.pdf
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: MYH7: 4066G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

International Journal Of Molecular Sciences
Gao, Jun J; Collyer, John J; Wang, Maochun M; Sun, Fengping F; Xu, Fuyi F
Publication Date: 2020-04-25

Variant appearance in text: MYH7: E1356K; rs727503246
PubMed Link: 32344918
Variant Present in the following documents:
  • Main text
  • ijms-21-03040.pdf
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: MYH7: 4066G>A
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 6
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.

Genome Medicine
Walsh, Roddy R; Mazzarotto, Francesco F; Whiffin, Nicola N; Buchan, Rachel R; Midwinter, William W; Wilk, Alicja A; Li, Nicholas N; Felkin, Leanne L; Ingold, Nathan N; Govind, Risha R; Ahmad, Mian M; Mazaika, Erica E; Allouba, Mona M; Zhang, Xiaolei X; de Marvao, Antonio A; Day, Sharlene M SM; Ashley, Euan E; Colan, Steven D SD; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Ho, Carolyn Y CY; Thomson, Kate L KL; Watkins, Hugh H; Barton, Paul J R PJR; Olivotto, Iacopo I; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2019-01-29

Variant appearance in text: MYH7: 4066G>A; E1356K
PubMed Link: 30696458
Variant Present in the following documents:
  • 13073_2019_616_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
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: MYH7: E1356K
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Journal Of Translational Medicine
Lu, Chaoxia C; Wu, Wei W; Liu, Fang F; Yang, Kunqi K; Li, Jiacheng J; Liu, Yaping Y; Wang, Rongrong R; Si, Nuo N; Gao, Peng P; Liu, Yongtai Y; Zhang, Shuyang S; Zhang, Xue X
Publication Date: 2018-08-30

Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
PubMed Link: 30165862
Variant Present in the following documents:
  • Main text
  • 12967_2018_1605_MOESM3_ESM.xlsx, sheet 1
  • 12967_2018_Article_1605.pdf
View BVdb publication page



A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.

Journal Of Molecular Biology
Parker, Francine F; Batchelor, Matthew M; Wolny, Marcin M; Hughes, Ruth R; Knight, Peter J PJ; Peckham, Michelle M
Publication Date: 2018-05-11

Variant appearance in text: MYH7: E1356K
PubMed Link: 29660325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Kelly, Melissa A MA; Caleshu, Colleen C; Morales, Ana A; Buchan, Jillian J; Wolf, Zena Z; Harrison, Steven M SM; Cook, Stuart S; Dillon, Mitchell W MW; Garcia, John J; Haverfield, Eden E; Jongbloed, Jan D H JDH; Macaya, Daniela D; Manrai, Arjun A; Orland, Kate K; Richard, Gabriele G; Spoonamore, Katherine K; Thomas, Matthew M; Thomson, Kate K; Vincent, Lisa M LM; Walsh, Roddy R; Watkins, Hugh H; Whiffin, Nicola N; Ingles, Jodie J; van Tintelen, J Peter JP; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray R; Funke, Birgit B
Publication Date: 2018-03

Variant appearance in text: MYH7: 4066G>A; Glu1356Lys
PubMed Link: 29300372
Variant Present in the following documents:
  • gim2017218x2.pdf
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: MYH7: E1356K; rs727503246
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page



Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.

Human Molecular Genetics
Viswanathan, Meera C MC; Tham, Rick C RC; Kronert, William A WA; Sarsoza, Floyd F; Trujillo, Adriana S AS; Cammarato, Anthony A; Bernstein, Sanford I SI
Publication Date: 2017-12-15

Variant appearance in text: MYH7: E1356K
PubMed Link: 28973424
Variant Present in the following documents:
  • Main text
View BVdb publication page



Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: MYH7: 4066G>A; E1356K
PubMed Link: 28771489
Variant Present in the following documents:
  • pone.0181465.s002.xlsx, sheet 1
View BVdb publication page



Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: MYH7: E1356K
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page



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: MYH7: 4066G>A; Glu1356Lys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: MYH7: E1356K
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
  • pcbi.1004962.s004.xlsx, sheet 1
View BVdb publication page



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: CMH1: E1356K
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: MYH7: E1356K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International
Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A
Publication Date: 2015

Variant appearance in text: MPD1: E1356K
PubMed Link: 25961035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015

Variant appearance in text: MYH7: 4066G>A
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell
Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC
Publication Date: 2014-01

Variant appearance in text: MYH7: E1356K
PubMed Link: 24474197
Variant Present in the following documents:
  • 13238_2013_16_MOESM9_ESM.pdf
  • 13238_2013_Article_16.pdf
View BVdb publication page



Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes.

The Journal Of Biological Chemistry
Wolny, Marcin M; Colegrave, Melanie M; Colman, Lucy L; White, Ed E; Knight, Peter J PJ; Peckham, Michelle M
Publication Date: 2013-11-01

Variant appearance in text: MYH7: E1356K
PubMed Link: 24047955
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Journal Of Medical Genetics
Lopes, Luis R LR; Zekavati, Anna A; Syrris, Petros P; Hubank, Mike M; Giambartolomei, Claudia C; Dalageorgou, Chrysoula C; Jenkins, Sharon S; McKenna, William W; , ; Plagnol, Vincent V; Elliott, Perry M PM
Publication Date: 2013-04

Variant appearance in text: MYH7: E1356K
PubMed Link: 23396983
Variant Present in the following documents:
  • jmedgenet-2012-101270-s2.pdf
View BVdb publication page



Analysis of the coding genome of diffuse large B-cell lymphoma.

Nature Genetics
Pasqualucci, Laura L; Trifonov, Vladimir V; Fabbri, Giulia G; Ma, Jing J; Rossi, Davide D; Chiarenza, Annalisa A; Wells, Victoria A VA; Grunn, Adina A; Messina, Monica M; Elliot, Oliver O; Chan, Joseph J; Bhagat, Govind G; Chadburn, Amy A; Gaidano, Gianluca G; Mullighan, Charles G CG; Rabadan, Raul R; Dalla-Favera, Riccardo R
Publication Date: 2011-07-31

Variant appearance in text: MYH7: E1356K
PubMed Link: 21804550
Variant Present in the following documents:
  • NIHMS308546-supplement-1.pdf
View BVdb publication page



A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype.

Biochemical And Biophysical Research Communications
Armel, Thomas Z TZ; Leinwand, Leslie A LA
Publication Date: 2010-01-01

Variant appearance in text: MPD1: E1356K
PubMed Link: 19913502
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

Circulation. Heart Failure
Theis, Jeanne L JL; Bos, J Martijn JM; Theis, Jason D JD; Miller, Dylan V DV; Dearani, Joseph A JA; Schaff, Hartzell V HV; Gersh, Bernard J BJ; Ommen, Steve R SR; Moss, Richard L RL; Ackerman, Michael J MJ
Publication Date: 2009-07

Variant appearance in text: MYH7: E1356K
PubMed Link: 19808356
Variant Present in the following documents:
  • Main text
View BVdb publication page