Varaico: Literature-Extracted Genetic Variants

Gene:NRAP
Variant:p.E17K
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NRAP

NM_198060.4:p.E17K

Associated Papers

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

Alqahtani A et al.

Clinical Genetics, 2025

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

Koskenvuo JW et al.

Plos One, 2021

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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."