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Possible mitochondrial disorder - nuclear genes v0.5 | ABCB7 | Ivone Leong reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.2 | ABCB7 |
Ivone Leong gene: ABCB7 was added gene: ABCB7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310 |