NCBI PubMed Central
open access
A novel de novo multi-exon deletion of SYT1 in a child with Baker-Gordon syndrome.
Conceptio Open Archive
Analyze & explore related research in Conceptio
Connect this record directly into your research workflow or AI agent. Explore citations across open repositories, query full text, and export structured proof bundles.
This document is indexed with metadata only: full text is not available in the archive for this record. Open the official source ↗
Related documents
- A novel and two recurrent UMOD mutations in autosomal dominant tubulointerstitial kidney disease (ADTKD): a case series and literature review#67568
- Detailed re-analysis of satellitome mapping facilitated by the telomere-to-telomere (T2T) assembly of bread wheat genome.#615928
- Data Sheet 1_Case Report: Anti-GQ1b antibody–positive overlap syndrome: a pediatric case involving the brainstem, spinal cord, and peripheral nerves.docx#430070
- Oncogenic PIK3CA mutations shape an immunoregulatory microenvironment in mosaic overgrowth disorders#1079360
- A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids#1066163
Record · ID 988281
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Bring this data into your agent: Connect via MCP or API · 20 free credits to start · no card required
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive