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Fanconi anemia complementation group E
rareFanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.
- Identifiers
- MONDO:0010953 OMIM:600901
- Causal genes
- FANCE
- Part of
- Fanconi anemia
- Also known as
- FACE · FANCE · FANCE Fanconi anaemia · FANCE Fanconi anemia · Fanconi anaemia caused by mutation in FANCE
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