Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G507S
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ABCD1

NM_000033.4:p.G507S

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

Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort.

Mao C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

SCN8A mutation in a child presenting with seizures and developmental delays.

Malcolmson J et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900360 (PubMed )
Supplement: supp_mcs.a001073_Supplementary_Table_1.xlsx › VAAST_results_39010_denovo.csv
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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."