Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G510S
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ABCD1

NM_000033.4:p.G510S

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

Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.

Durmaz A et al.

Metabolic Brain Disease, 2014

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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