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Academic Journal

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Subjects: Mesomelic dysplasia; Horseshoe kidney; Intellectual disability

  • Source: ISSN: 1756-994X ; Genome Medicine ; https://hal.univ-lille.fr/hal-04643350 ; Genome Medicine, 2024, Genome Medicine, 16, pp.72. ⟨10.1186/s13073-024-01339-y⟩.

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Academic Journal

Natural history of Myhre syndrome

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-03941105 ; Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.304. ⟨10.1186/s13023-022-02447-x⟩.

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