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UnknownConclusion of diagnostic odysseys due to inversions disrupting <i>GLI3</i> and <i>FBN1</i>.
Not available
S-EPMC10176330 | biostudies-literature
UnknownUsing data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutation.
Not available
S-EPMC8961759 | biostudies-literature
UnknownUse of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Not available
S-EPMC10715503 | biostudies-literature
UnknownThe impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Not available
S-EPMC11179413 | biostudies-literature
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