Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.G22Splc
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LAMP2

NM_002294.3:p.G22Splc

Associated Papers

Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study.

Zhang Q et al.

The Canadian Journal of Cardiology, 2025

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.

Shalata A et al.

Genes, 2023

37628591 (PubMed )
Supplement: genes-14-01539-s001.zip › genes-2456230-supplementary › Supplementary_FIGURE_and_LAMP2_MUTATIONS_EXCEL_FILES › Table_S1-HGMD_LAMP2_gene_mutations.xlsx › Splicing_--29_mutations

Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling.

Vučković S et al.

Stem Cell Research & Therapy, 2022

35870954 (PubMed )
Supplement: 13287_2022_3021_MOESM1_ESM.pdf

The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy.

Fang T et al.

Journal of Clinical Medicine, 2021

Cardiac Phenotype Characterization at MRI in Patients with Danon Disease: A Retrospective Multicenter Case Series.

Wei X et al.

Radiology, 2021

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

Brodehl A et al.

International Journal of Molecular Sciences, 2019

Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes-a systematic review.

Eschenhagen T et al.

Pflugers Archiv : European Journal of Physiology, 2019

Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Giacomelli E et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Brief Report: Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure.

Hashem SI et al.

Stem Cells (dayton, Ohio), 2015

Danon disease: focusing on heart.

Cheng Z et al.

Journal of Human Genetics, 2012

Functional performance and muscle strength phenotypes in men and women with Danon disease.

Stevens-Lapsley JE et al.

Muscle & Nerve, 2010

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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."