Associated Papers
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.
Kundu K et al.
Human Mutation, 2017
Decoding mechanisms by which silent codon changes influence protein biogenesis and function.
Bali V et al.
The International Journal of Biochemistry & Cell Biology, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.
Macaya D et al.
American Journal of Medical Genetics. Part A, 2009
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
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