Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.H283Y
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ABCD1

NM_000033.4:p.H283Y

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

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

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

Engelen M et al.

Brain : a Journal of Neurology, 2014

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