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Audric Cologne Selected Research

type 1 Microcephalic osteodysplastic primordial dwarfism

1/2020Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.
1/2019New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

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Audric Cologne Research Topics

Disease

2type 1 Microcephalic osteodysplastic primordial dwarfism
01/2020 - 01/2019

Drug/Important Bio-Agent (IBA)

2Small Nuclear RNA (snRNA)IBA
01/2020 - 01/2019