Fraser syndrome 2

Summary
Synonym
  • FRASRS2
Definition
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3.
Super Class
Fraser syndrome
Disease Ontology
DOID:0111407
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
341640 FREM2 FRAS1 related extracellular matrix 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q5SZK8 FRAS1-related extracellular matrix protein 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025