Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L663P
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ABCD1

NM_000033.4:p.L663P

Associated Papers

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Keefe AC et al.

Npj Genomic Medicine, 2025

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."