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Mutations in the FAA gene
| Nucleotide change* | Location | Ethnicity | No. of alleles | No. of patients | Mutation type |
|---|---|---|---|---|---|
Variants are designated as mutations based on inheritance pattern and screening of normal alleles. Pathogenicity has not been proven.
Ref. 12.
These mutations also were described by J. Pronk and A. Savoia, respectively (Fanconi Anemia Mutation Database).
