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Your search keyword '"Ryba, Lukas"' showing total 5 results

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5 results on '"Ryba, Lukas"'

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1. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

3. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

4. Scientific Business Abstracts.

5. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

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