Associated Papers
SNV/Indel and CNV Analysis in Trio-WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost-Effectiveness.
Qian G et al.
Clinical Genetics, 2025
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H et al.
Journal of Inherited Metabolic Disease, 2021
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
Farolfi M et al.
Bmc Ophthalmology, 2021
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