Associated Papers
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1.
Fujioka H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2008
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
Splendore A et al.
Human Mutation, 2005
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
Dixon J et al.
American Journal of Medical Genetics. Part A, 2004
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
Splendore A et al.
Journal of Medical Genetics, 2002
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