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Journal: Genes, 2025
Volume: 16
Number: 838
838
Article: Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings
Authors: by Lukas Hackl, Edda Haberlandt, Thomas Müller, Susanne Piribauer, Dorota Garczarczyk-Asim, Thomas Zöggeler, Daniela Karall, Johannes Zschocke and Andreas R. Janecke
Link: https://www.mdpi.com/2073-4425/16/7/838

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