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Advancing Diagnosis and Therapy of Rare Monogenic Disorders through AI: Insights from Adrenoleukodystrophy

Background: Adrenoleukodystrophy (ALD) is a rare X-linked monogenic disorder caused by mutations in the ABCD1 gene, resulting in severe neurologica and adrenal dysfunction. Its phenotypic variability and diagnostic complexity hinder timely intervention. Objective: This review examines the role of ar...

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Autori principali: Sharma Bhavya, Gupta Yashika, Maurya Sarita, Kumar Tripathi Pankaj, Raj Thekkedathu Kavya, Jain Chakresh Kumar
Natura: Artigo
Lingua:Inglês
Pubblicazione: EDP Sciences 2026-01-01
Serie:BIO Web of Conferences
Soggetti:
adrenoleukodystrophy
monogenic disorders
artificial intelligence
deep learning
crispr
Accesso online:https://www.bio-conferences.org/articles/bioconf/pdf/2026/26/bioconf_icabb2026_01022.pdf
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