Associated Papers
Computationally resolved neuroprogenitor cell biomarkers associate with human disorders.
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Stem Cell Reports, 2025
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Supplement: mmc2.xlsx › Table_S6A
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M et al.
Clinical Genetics, 2024
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
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