Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.L1619delFs
Back to variants list

DSP

NM_004415.4:p.L1619delFs

Associated Papers

Specification of frequency criteria for secondary findings genes to improve variant classification concordance.

Johnston JJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41000626 (PubMed )
Supplement: media-1.xlsx › Table_S1_Data_and_Reference

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

Hoorntje ET et al.

Circulation. Genomic and Precision Medicine, 2023

36580316 (PubMed )
Supplement: EMS158320-supplement-Supplemental_Tables.xlsx › Table_SIII
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."