The EMBO Journal · 2007 · 117 citations · 47 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsGenetic DisordersLoss Of HeterozygosityMendelian DisordersRare Disease GeneticsDominant Negative MutationsGain-of-function VariantsHypomorphic AllelesHypomorphic Gene VariantsMendelian Disease Alleles
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Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Stefan Mundlos, F Otto, C Mundlos et al. · Cell · 1997 · 1.5K citations · Full text
Mutant p53 Gain of Function in Two Mouse Models of Li-Fraumeni Syndrome
Kenneth P. Olive, David A. Tuveson, Zachary C. Ruhe et al. · Cell · 2004 · 1.3K citations · Full text