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Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants

Dafne Dain Gandelman Horovitz1, Maria Angelica de Faria Domingues de Lima2, Lais de Carvalho Pires3

  • 1Medical Genetics Department, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, Brazil.

Journal of Central Nervous System Disease
|June 22, 2023
PubMed

Keywords:
HCN1 proteinIRF2BPL proteindevelopmental disabilitiesepilepsyparkinsonian disordersrare diseaseswhole exome sequencing

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