Associated Papers
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.
Tejero E et al.
Orphanet Journal of Rare Diseases, 2025
41088272 (PubMed )
Supplement: 13023_2025_3928_MOESM2_ESM.pdf
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