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While structural and functional neuroimaging can localize damage, they cannot explain its molecular origin (Huang and Zhang, 2023

Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients

10.1183/13993003.00629-2017 Eur Respir J

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The guidance for neurological symptoms, recommending every-other-day injections, further highlights that the standard maintenance dose is not universally sufficient
