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Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient
2017
Susana Carmona
Maria da Luz Freitas
Hugo Froufe
Maria José Simões
María João Sampaio
Eduardo Silva
Conceição Egas
Keywords:
Genetics
Anterior Eye Segment
Exome sequencing
Phenotype
Peptide sequence
Genome-wide association study
Protein domain
Nonsense mutation
Forkhead Transcription Factors
Biology
Correction
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