HAL (France)
open access
Atypical Phenotype of Marinesco–Sjögren Syndrome with Predominant Myopathy due to a Novel SIL1 Variant
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
- Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients#1266142
- A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing#1266387
- Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis#389535
- Single-Cell RNA Sequencing Revealed the Role of Interferon-Gamma Related Genes in Primary Sjögren's Syndrome.#440760
- GEDO: topology-based inference of gene module activity in Sjögren's disease.#189956
Record · ID 1235322
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