Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A634T
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ABCD1

NM_000033.4:p.A634T

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

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P3-potential_comp.het.

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

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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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."