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Article

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

Scientific reports - 13 Jun 2017

Truszkowska Grażyna T, Bilińska Zofia T, Muchowicz Angelika, Pollak Agnieszka, Biernacka Anna, Kozar-Kamińska Katarzyna, Stawiński Piotr, Gasperowicz Piotr, Kosińska Joanna, Zieliński Tomasz, Płoski Rafał

Abstract excerpt

The genetic background of dilated cardiomyopathy is highly heterogeneous, with close to 100 known genes and a number of candidates described to date. Nebulin-related-anchoring protein (NRAP) is an actin-binding cytoskeletal protein expressed predominantly in striated and cardiac muscles, and is involved in myofibrillar assembly in the foetal heart and in force transmission in the adult heart. The homozygous NRAP...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28611399
DOI: 10.1038/s41598-017-03189-8
PMCID: PMC5469774

Genes

NRAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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