Publications:

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Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology

Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J

Publication Date: 2023-04-18

Variant appearance in text: MYH7: Q734E

PubMed Link: 37131793

Variant Present in the following documents:

• Main text
• nihpp-2023.04.15.536999v1.pdf

View BVdb publication page

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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: 2200C>G; Gln734Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Retrospective analysis of clinical phenotype and prognosis of hypertrophic cardiomyopathy complicated with hypertension.

Scientific Reports

Luo, Qin Q; Chen, Jin J; Zhang, Tianhua T; Tang, Xiaoyu X; Yu, Bilian B

Publication Date: 2020-01-15

Variant appearance in text: MYH7: 2200C>G

PubMed Link: 31941943

Variant Present in the following documents:

• 41598_2019_Article_57230.pdf

View BVdb publication page

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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: Q734E

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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: CMH1: Q734E

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: MYH7: Q734E

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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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

Heart (British Cardiac Society)

García-Giustiniani, Diego D; Arad, Michael M; Ortíz-Genga, Martín M; Barriales-Villa, Roberto R; Fernández, Xusto X; Rodríguez-García, Isabel I; Mazzanti, Andrea A; Veira, Elena E; Maneiro, Emilia E; Rebolo, Paula P; Lesende, Iván I; Cazón, Laura L; Freimark, Dov D; Gimeno-Blanes, Juan Ramón JR; Seidman, Christine C; Seidman, Jonathan J; McKenna, William W; Monserrat, Lorenzo L

Publication Date: 2015-07

Variant appearance in text: MYH7: Gln734Glu

PubMed Link: 25935763

Variant Present in the following documents:

• Main text
• heartjnl-2014-307205.pdf

View BVdb publication page

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