Associated Papers
Genetic Diagnosis and Discovery Enabled by Large Language Models.
Tu T et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Keehan L et al.
American Journal of Medical Genetics. Part A, 2022
Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Bodian DL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.
Bodian DL et al.
Cold Spring Harbor Molecular Case Studies, 2018
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