HAL (France)
open access
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 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
- Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss#308244
- Analysis of Cutaneous Phosphorylated Alpha-Synuclein to Identify Patients at Risk of Progressing From Essential Tremor to Parkinson's Disease#1060195
- Novel insight into PINK1/parkin-associated autophagy implicated in Parkinson disease.#135810
- Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay#619219
- Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility#414997
Record · ID 370717
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