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Open access
Jan 2026
Novel ALG13 Variants and an Expanded Neurodevelopmental Spectrum: Genotype–Phenotype Correlations
The findings support a possible domain‐related genotype–phenotype association for the role of ALG13 in neurodevelopmental disorders and provide additional developmental context for the role of ALG13 in neurodevelopmental disorders.
Song Su, Wandong Hu, Ying Ren et al.
· Human Mutation · 0 citations