Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
2017 · The American Journal of Human Genetics · 51 citations
https://doi.org/10.1016/j.ajhg.2017.07.010
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Hilger H. Ropers is an academic researcher from Max Planck Institute for Molecular Genetics. The author has contributed to research in topics: RNA modifications and cancer & Congenital heart defects research & Genetics and Neurodevelopmental Disorders. The author has an h-index of 8, co-authored 11 publications.
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