Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.P17_V18Splc
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DSPP

NM_014208.3:p.P17_V18Splc

Associated Papers

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

Sinus arrest in a p.Arg160X-DSP-positive patient without evidence of desmoplakin-mediated cardiomyopathy: a case report.

Tan NY et al.

Frontiers in Cardiovascular Medicine, 2023

The EP300/TP53 pathway, a suppressor of the Hippo and canonical WNT pathways, is activated in human hearts with arrhythmogenic cardiomyopathy in the absence of overt heart failure.

Rouhi L et al.

Cardiovascular Research, 2022

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