Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.Y153fs
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ABCD1

NM_000033.4:p.Y153fs

Associated Papers

Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.

Kumar S et al.

The Indian Journal of Medical Research, 2025

41100649 (PubMed )
Supplement: IJMR-162-2-237-SF2.pdf

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.

Sen S et al.

Frontiers in Genetics, 2025

40385982 (PubMed )
Supplement: Table2.xlsx › Sheet1
Select a paper to view details
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