Varaico: Literature-Extracted Genetic Variants

Gene:NRAP
Variant:p.E1190*
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NRAP

NM_198060.4:p.E1190*

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

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Bertoli-Avella AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33875846 (PubMed )
Supplement: 41436_2021_1159_MOESM2_ESM.xlsx › Homozygous_variants

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

Koskenvuo JW et al.

Plos One, 2021

33534821 (PubMed )
Supplement: pone.0245681.s001.xlsx › Sheet1
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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."