Koc University Digital Collections
metadata only
FSHD2-and BAMS-associated mutations confer opposing effects on SMCHD1 function
Structural maintenance of chromosomes flexible hinge domain-containing 1 (Smchd1) plays important roles in epigenetic silencing and normal mammalian development. Recently, heterozygous mutations in SMCHD1 have been reported in two disparate disorders: facioscapulohumeral muscular dystrophy type 2 (F
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
- Assessing the role of the SMC-5/6 complex in meiotic double strand DNA break repair#929029
- Drp1 controls complex II assembly and skeletal muscle metabolism by Sdhaf2 action on mitochondria#1145855
- Blockade of the KRAS-FOSL1 axis elicits DNA damage repair deficiency exploitable with local and systemic genotoxic therapies#4807
- Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes#992333
- Cryo-EM structure of α-Synuclein Fibrils Harboring the Dementia with Lewy Bodies–Associated E83Q Mutation#300675
Record · ID 955369
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