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Stay above the current with our latest scientific articles
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Confirmation of ACER3-related recessive neurodegeneration
Learn more about our recent findings in confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification.
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Association of hydrocephalus and renal dysplasia
Read more about our recent findings in association of hydrocephalus and renal dysplasia with a homozygous DLG5 frameshit variant in an alternatively spliced exon.
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Novel clinical and genetic insights into dysfunction of the ASC-1 complex
The transcriptional coactivator ASC-1 complex is composed of four subunits ASC-1 (TRIP4), ASCC1 (ASCC1), ASCC2 (ASCC2) and ASCC3 (ASCC3). Read more about novel clinical and genetic insights into dysfunction of the ASC-1…