Publications:

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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: MYBPC3: 2843A>C; Asn948Thr

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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Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time.

Frontiers In Pharmacology

Blagova, Olga O; Alieva, Indira I; Kogan, Eugenia E; Zaytsev, Alexander A; Sedov, Vsevolod V; Chernyavskiy, S S; Surikova, Yulia Y; Kotov, Ilya I; Zaklyazminskaya, Elena V EV

Publication Date: 2020

Variant appearance in text: MYBPC3: Asn948Thr

PubMed Link: 33101033

Variant Present in the following documents:

• fphar-11-579450.pdf

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: rs121909376

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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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: CMH4: N948T

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: MYBPC3: N948T

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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Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.

Cardiogenetics

Wells, Quinn S QS; Ausborn, Natalie L NL; Funke, Birgit H BH; Pfotenhauer, Jean P JP; Fredi, Joseph L JL; Baxter, Samantha S; Disalvo, Thomas D TD; Hong, Charles C CC

Publication Date: 2011-08-22

Variant appearance in text: MYBPC3: Asn948Thr

PubMed Link: 24062880

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myosin binding protein C: implications for signal-transduction.

Journal Of Muscle Research And Cell Motility

Knöll, Ralph R

Publication Date: 2012-05

Variant appearance in text: MYBPC3: Asn948Thr

PubMed Link: 22173300

Variant Present in the following documents:

• Main text
• 10974_2011_Article_9281.pdf

View BVdb publication page

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