Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.V583M
Back to variants list

ABCD1

NM_000033.4:p.V583M

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

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

33920672 (PubMed )
Supplement: IJNS-07-00022-s001.zip › IJNS-1144684-SI.xlsx › Supplemental_Table_-_Variants

Autonomic dysfunction in a patient with X-linked adrenoleukodystrophy.

Zhang Y et al.

The International Journal of Neuroscience, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."