Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R401G
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ABCD1

NM_000033.4:p.R401G

Associated Papers

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

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

Habekost CT et al.

Orphanet Journal of Rare Diseases, 2014

24410807 (PubMed )
Supplement: 1750-1172-9-6-S1.pdf

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

Pereira Fdos S et al.

Plos One, 2012

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