Varaico: Literature-Extracted Genetic Variants

Gene:MYBPHL
Variant:p.R255*
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MYBPHL

NM_001010985.3:p.R255*

Associated Papers

Myosin-binding protein H-like nonsense variants exhibit impaired sarcomere incorporation and alter contractility.

Alvarez-Arce A et al.

The Journal of General Physiology, 2026

Myosin-binding protein H-like regulates myosin-binding protein distribution and function in atrial cardiomyocytes.

Barefield DY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects.

Barefield DY et al.

Journal of Molecular and Cellular Cardiology, 2022

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

Brodehl A et al.

International Journal of Molecular Sciences, 2019

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Minoche AE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › SK-N-DZ

Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.

Barefield DY et al.

Circulation, 2017

Closing the Genotype-Phenotype Loop for Precision Medicine.

MacRae CA et al.

Circulation, 2017

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-12.xlsx › S_Data_11
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."