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PedAM

Pediatric Disease Annotations & Medicines




Disease ataxia
Phenotype C0002871|anaemia
Sentences 1
PubMedID- 21985033 A similar observation stands true regarding glutaredoxin 5 (an assembly factor for cellular isc) [27] (figure 1), as a mutation in the exon 1 of the glrx5 gene, putatively leading to a deleterious splicing defect, results in sideroblastic anaemia without ataxia and no overlap with the fa phenotype [28].

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