Varaico: Literature-Extracted Genetic Variants

Gene:CNP
Variant:p.E99*
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CNP

NM_033133.5:p.E99*

Associated Papers

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.

Alghamdi M et al.

American Journal of Medical Genetics. Part A, 2025

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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."