Varaico: Literature-Extracted Genetic Variants

Gene:NRAP
Variant:p.R1467*
Back to variants list

NRAP

NM_006175.5:p.R1467*

Associated Papers

Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP.

Onore ME et al.

Genes, 2025

Reduced Penetrance and Variable Expression of Dilated Cardiomyopathy Associated With Homozygous Truncating Variants in NRAP Gene.

Alqahtani A et al.

Clinical Genetics, 2025

Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.

Merc MD et al.

Prenatal Diagnosis, 2024

A novel loss-of-function mutation in NRAP is associated with left ventricular non-compaction cardiomyopathy.

Zhang Z et al.

Frontiers in Cardiovascular Medicine, 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM1_ESM.pdf

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Koskenvuo JW et al.

Plos One, 2021

Genetic Basis of Severe Childhood-Onset Cardiomyopathies.

Vasilescu C et al.

Journal of the American College of Cardiology, 2018

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

Truszkowska GT et al.

Scientific Reports, 2017

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."