Associated Papers
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
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Npj Genomic Medicine, 2025
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Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
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Journal of Translational Medicine, 2025
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Supplement: 12967_2025_6069_MOESM3_ESM.xlsx › Validation_cases
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