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Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.
Heutinck PAT et al.
Scientific Reports, 2025
Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.
Yang Y et al.
Pediatric Investigation, 2021
34589676 (PubMed )
Supplement: PED4-5-211-s001.pdf
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