Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.Q240*
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LAMP2

NM_002294.3:p.Q240*

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

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.

Narayan A et al.

Ophthalmic Genetics, 2024

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 › Missense_nonsense-44_Mutations

Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Chan W et al.

Eclinicalmedicine, 2022

35747179 (PubMed )
Supplement: mmc1.pdf

A Frequent Observation of Wolff-Parkinson-White Syndrome and Fasciculoventricular Pathways in Patients With Danon Disease.

Chen X et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2022

Four-dimensional echocardiography and left ventricular systolic strain measured via two-dimensional speckle-tracking for Danon disease: a case series.

Changsheng M et al.

European Heart Journal. Case Reports, 2021

Danon disease: a case report and literature review.

Xu J et al.

Diagnostic Pathology, 2021

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.

Gurka J et al.

Esc Heart Failure, 2020

Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.

Fu L et al.

The American Journal of Cardiology, 2016

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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."