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Paper Details

A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.
Hum Genomics
2
2023
ATM, Thr150Met, UBE2H, Ube2h, Ubiquitin, c, c.449C, candidate gene, candidate genes, chromosome microarray, developmental delay, developmental delays, differentiated neural cells, gene, global developmental delay, intractable convulsion, mental retardation, neurodevelopmental defects, neurodevelopmental diseases, p53, patient, patients, pediatric seizures, rare diseases, ube2h, ubiquitin, ubiquitin system, zebrafish, zebrafish knockdown morphants

Datasets

Release 1.2