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Article

Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy.

International journal of molecular sciences - 20 Oct 2022

Orlova Anna, Guseva Daria, Ryzhkova Oxana

Abstract excerpt

A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy. METHODS: The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The variant was verified with Sanger sequencing for the proband and her parents. RESULTS: We reported a proband with a new de novo frameshift mutation, c.3781del (p.(Trp1261GlyfsTer29)), in the CASZ1 gene....

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Identifiers

PMID: 36293425
DOI: 10.3390/ijms232012506
PMCID: PMC9603937

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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