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Updated: May 15, 2025

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Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

Carlos A Dominguez Gonzalez1, Nancy B Spinner2, Rebecca C Ahrens-Nicklas3

  • 1Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|April 9, 2025
PubMed
Abstract

No abstract available in PubMed .

Keywords:
LeukodystrophyNewborn screeningSecondary findingsVery-long-chain fatty acidsX-linked adrenoleukodystrophy

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