Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A396T
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ABCD1

NM_000033.4:p.A396T

Associated Papers

Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.

Kumar S et al.

The Indian Journal of Medical Research, 2025

41100649 (PubMed )
Supplement: IJMR-162-2-237-ST.pdf

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.

Ahn JH et al.

Npj Genomic Medicine, 2024

39609445 (PubMed )
Supplement: 41525_2024_449_MOESM3_ESM.xlsx › Table_S2

Structural and functional insights of the human peroxisomal ABC transporter ALDP.

Jia Y et al.

Elife, 2022

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

Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.

Liu S et al.

Molecular Genetics & Genomic Medicine, 2022

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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."