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FERMT1 - FERM domain containing kindlin 1
- Synonym(s) : FLJ20116, KIND1, kinderlin, kindlin-1, UNC112A, URP1
- Previous symbols and names : C20orf42, Fermitin family homolog 1 (Drosophila), chromosome 20 open reading frame 42, fermitin family homolog 1 (Drosophila), fermitin family member 1
- Type : gene with protein product
- Chromosomal location : 20p12.3
- OMIM: 607900
- HGNC: 15889
- UniProtKB: Q9BQL6
- Genatlas: FERMT1
- GenCC: FERMT1
- Ensembl: ENSG00000101311
- IUPHAR-DB: -
- Reactome: -
- LOVD: FERMT1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Kindler epidermolysis bullosa
ORPHA:2908 
: AssessedAdditional information
Patient-centred resources for this gene
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Specialised Social Services
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