Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.E408_V409Splc
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ABCD1

NM_000033.4:p.E408_V409Splc

Associated Papers

Transposon clusters as substrates for aberrant splice-site activation.

Alvarez MEV et al.

Rna Biology, 2021

32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf

A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction: a novel point mutation in the ABCD1 gene.

Inoue S et al.

Internal Medicine (tokyo, Japan), 2012

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