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Fanconi anemia complementation group A
rareFanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.
- Identifiers
- MONDO:0009215 OMIM:227650
- Causal genes
- FANCA
- Also known as
- Estren-Dameshek variant of Fanconi Anaemia · FANCA · FANCA Fanconi anaemia · FANCA Fanconi anemia · Fanconi Anaemia
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