Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A273E
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ABCD1

NM_000033.4:p.A273E

Associated Papers

Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.

Al-Hedaithy A et al.

Scientific Reports, 2025

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

Al-Hamed MH et al.

Molecular Genetics & Genomic Medicine, 2025

Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.

Chen ZP et al.

Nature Communications, 2022

35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf
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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."