Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R280H
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ABCD1

NM_000033.4:p.R280H

Associated Papers

Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update.

Rayannavar A et al.

American Journal of Medical Genetics. Part A, 2025

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.

Burton BK et al.

International Journal of Neonatal Screening, 2022

Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.

Matteson J et al.

International Journal of Neonatal Screening, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."