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Hledat publikace relevantní k dotazu "deep-intronic variants"
deep-intronic variants
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publication
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
2023 |
1. lékařská fakulta
publication
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
2020 |
1. lékařská fakulta
publication
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
2023 |
1. lékařská fakulta