Varaico: Literature-Extracted Genetic Variants

Gene:ABCD3
Variant:p.E55K
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ABCD3

NM_002858.4:p.E55K

Associated Papers

Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.

Shimozawa N et al.

Journal of Medical Genetics, 1999

[Clinical and molecular aspects of peroxisome-deficient disorders].

Suzuki Y et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1993

Genetic and molecular bases of peroxisome biogenesis disorders.

Suzuki Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."