Work

Reverse phenotyping and artificial intelligence in identifying novel and De Novo variants in the RAB39B gene associated with X linked epilepsy and intellectual disability

Year: 2024

Type: article

Abstract: Pediatric epilepsy, which affects 0.5 1 of children predominantly those under 5 years of age is frequently associated with cognitive challenges, drug resistance, and increased mortality.

Source: Journal of Artificial Intelligence & Robotics

DOI: 10.52768/3067-7947/1011

Authors: Pediatric Resident, Universidad Libre Seccional Cali, Cali, Colombia., Nathalie Yepes Madrid

Institution: Universidad Libre de Colombia

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: hybrid

OpenAlex ID: W4415101381

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