Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N581Y
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ATP7B

NM_000053.4:p.N581Y

Associated Papers

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Klippel C et al.

International Journal of Neonatal Screening, 2025

39846592 (PubMed )
Supplement: IJNS-11-00006-s001.zip › IJNS-3344349-supplementary.pdf

Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.

Al-Obaidi RGY et al.

Sultan Qaboos University Medical Journal, 2025

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table
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