Work

A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements

Year: 2025

Type: article

Abstract: transcripts. The possible link between Rbm15 and Dcc supports a role for Rbm15 in CMMs.

Source: Human Genetics and Genomics Advances

DOI: 10.1016/j.xhgg.2025.100528

Authors: Frederike L. Harms, Fanny Kortüm, Malik Alawi, Martin Staudt, Kerstin Kutsche

Institutions: University Medical Center Hamburg-Eppendorf, Ludwig-Maximilians-Universität München

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,300

Funder: Deutsche Forschungsgemeinschaft

Award: G5694659347

OpenAlex ID: W4414919626

FWCI: 0.552

Cites: 29

Cited by: 1

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