Varaico: Literature-Extracted Genetic Variants

Gene:LDB3
Variant:p.D673N
Back to variants list

LDB3

NM_007078.3:p.D673N

Associated Papers

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Chahal CAA et al.

Journal of the American Heart Association, 2020

Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy.

Hata Y et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.

Hata Y et al.

Brain Pathology (zurich, Switzerland), 2017

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12

Novel GNE compound heterozygous mutations in a GNE myopathy patient.

Cai H et al.

Muscle & Nerve, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."