Associated Papers
Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.
Rueda-Gaitán P et al.
Frontiers in Pediatrics, 2025
40918675 (PubMed )
Supplement: Table1.xlsx › VARIANTS
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Caron V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
Kalaskar VK et al.
Human Mutation, 2020
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