Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.P543S
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ABCD1

NM_000033.4:p.P543S

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

Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist?

Benzoni C et al.

The Neurologist, 2019

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