Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Gabaldon-Albero A; Martin-Grau C; Marti-Masanet M; Lopez-Jimenez A; Llorens R; Beseler-Soto B; Martin-Zamora S; Lopez B · 2024 · Pediatric rheumatology online journal
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract (excerpt)
Background Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic…
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Metadata source: Europe PMC · DOI 10.1186/s12969-024-01036-5