Work

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion

Year: 2024

Type: article

Study design: Case Report

Source: Clinical Genetics

DOI: 10.1111/cge.14653

Authors: Tomer Poleg, Regina Proskorovski‐Ohayon, Vadim Dolgin, Noam Hadar, Amit Safran, Nadav Agam, Matan M. Jean, Ofek Freund, Libe Gradstein, Ilan Shelef, Yair Sadaka, Ohad S. Birk

Institutions: Ben-Gurion University of the Negev, Soroka Medical Center, Israel Ministry of Health

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Israel Science Foundation

Award: G7196362307

OpenAlex ID: W4404683960

FWCI: 0.964

Cites: 18

Cited by: 4

Related to: 10