Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.V310F
Back to variants list

LAMP2

NM_002294.3:p.V310F

Associated Papers

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_S4-ClinVar-3_Missense_Mutation-1.xlsx › Sheet_1_-_clinvar_result__4_

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.

Fernández L et al.

Clinical Genetics, 2021

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.

López-Sainz Á et al.

Revista Espanola De Cardiologia (english Ed.), 2019

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."