PMC · DOI:10.3325/cmj.2026.67.50·February 1, 2026
Before PAX1, DKK1, and D-loop variants are held responsible for the Chiari-I malformation, the pathogenicity of each variant must be proven
Josef Finsterer
Abstract
Linked entities
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
Proteins2
Species1
Mutations6
m.16181A>Gc.548-3T>Cc.556 G>Am.210A>Gm.16145G>Am.16031C>G
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Taxonomy
TopicsSpinal Dysraphism and Malformations · Neurogenetic and Muscular Disorders Research · Congenital Diaphragmatic Hernia Studies