Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Landscape of Constitutional SOX4 Variation in Human Disorders.
Grippa M et al.
Genes, 2024
Novel Variants of SOX4 in Patients with Intellectual Disability.
Grosse M et al.
International Journal of Molecular Sciences, 2023
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
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