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MIRAGE
Fanconi anemia complementation group S

Summary
Definition
A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21.
Super Class
Fanconi anemia autosomal recessive disease
Disease Ontology
DOID:0060979
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
672 BRCA1 BRCA1 DNA repair associated
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P38398 Breast cancer type 1 susceptibility protein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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