Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Conclusions: This study demonstrated that approximately 4% of patients may have dual molecular diagnoses, and 6% were surgically or medically actionable in LCA. Therefore, accurate molecular diagnosis and careful interpretation of next-generation sequencing results can be of great help in patients with LCA.
PMID: 32165824 [PubMed - in process]
Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research
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