Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Reevaluation of the South Asian MYBPC3 Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy

1 Jun 2020

Abstract excerpt

Background: The common intronic deletion, MYBPC3 Δ25 , detected in 4% to 8% of South Asian populations, is reported to be associated with cardiomyopathy, with ≈7-fold increased risk of disease in variant carriers. Here, we examine the contribution of MYBPC3 Δ25 to hypertrophic cardiomyopathy (HCM) in a large patient cohort. Methods: Sequence data from 2 HCM cohorts (n=5393) was analyzed to determine MYBPC3 Δ25...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Congenital heart defects research
Share to Williams Syndrome Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32163302
DOI: 10.1161/circgen.119.002783

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reevaluation of the South Asian MYBPC3 Δ25bp Intronic Deletion in Hypertrophic CardiomyopathyPMID 32163302Read ↗

Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.Semantic proximity Read ↗

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.Semantic proximity Read ↗

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.Semantic proximity Read ↗

Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy.Semantic proximity Read ↗

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic CardiomyopathySemantic proximity Read ↗

Genetic, clinical, molecular, and pathogenic aspects of the South Asian–specific polymorphic MYBPC3Δ25bp variantSemantic proximity Read ↗

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.Semantic proximity Read ↗

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.Semantic proximity Read ↗

MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correctionSemantic proximity Read ↗

Protein haploinsufficiency drivers identify<i>MYBPC3</i>mutations that cause hypertrophic cardiomyopathySemantic proximity Read ↗

Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.