A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a-Reference-Cited by-同舟云学术

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a

Published:2023-04-11 Issue: Volume: Page:
ISSN:1364-6753
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Harms Frederike L.,Weiss Deike,Lisfeld Jasmin,Alawi Malik,Kutsche Kerstin^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-023-00716-w.pdf

Reference66 articles.

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