Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.L156*
Back to variants list

LAMP2

NM_002294.3:p.L156*

Associated Papers

LAMP2 variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort.

Lu J et al.

Cardiology in the Young, 2025

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 › 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

Danon disease: a case report and literature review.

Xu J et al.

Diagnostic Pathology, 2021

Generation of induced pluripotent stem cells (NJDTHi001-A) from a Danon disease child with mutation of c.467 T > G in LAMP2 gene.

Zhu X et al.

Stem Cell Research, 2020

Case Report: Identification of Mutations in LAMP2 in Two Chinese Infants With Danon Disease.

Zhang L et al.

Frontiers in Genetics, 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

Danon disease: focusing on heart.

Cheng Z et al.

Journal of Human Genetics, 2012

Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.

Dougu N et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2009

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.

Yang Z et al.

Circulation, 2005

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."