Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.K513R
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ABCD1

NM_000033.4:p.K513R

Associated Papers

Overview of genetic mutations causing adrenoleukodystrophy: A case-series study.

Fathi M et al.

Molecular Genetics and Metabolism Reports, 2025

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Zou W et al.

Journal of Assisted Reproduction and Genetics, 2024

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

Proteasome-dependent protein quality control of the peroxisomal membrane protein Pxa1p.

Devarajan S et al.

Biochimica Et Biophysica Acta. Biomembranes, 2020

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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."