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Original ArticleNeth Heart J (2023) 31:315323https://doi.org/10.1007/s12471023017912The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant Thomas A. BOS Sebastian R. D.

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How to fill out aberrant splicing as a

01

Identify the aberrant splicing event in the gene of interest.

02

Determine the type of aberrant splicing (e.g. exon skipping, intron retention, alternative 5’ or 3’ splice sites).

03

Confirm the aberrant splicing using experimental techniques such as RT-PCR or RNA-Seq.

04

Analyze the functional consequences of the aberrant splicing on protein expression or gene regulation.

05

Document the aberrant splicing event in a comprehensive manner for future reference.

Who needs aberrant splicing as a?

01

Researchers studying gene expression and regulation.

02

Clinicians diagnosing genetic disorders.

03

Bioinformaticians analyzing RNA sequencing data.

04

Pharmaceutical companies developing therapeutics targeting splicing abnormalities.

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What is aberrant splicing as a?

Aberrant splicing refers to the incorrect joining together of exons during the process of gene expression.

Who is required to file aberrant splicing as a?

Researchers and scientists studying gene expression are typically required to report aberrant splicing events.

How to fill out aberrant splicing as a?

Aberrant splicing events can be documented through bioinformatic analysis tools and then reported accordingly.

What is the purpose of aberrant splicing as a?

The purpose of reporting aberrant splicing events is to better understand gene regulation and its impact on various biological processes.

What information must be reported on aberrant splicing as a?

Information such as the gene involved, the specific exons affected, and the consequences of the aberrant splicing event should be reported.

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