Associated Papers
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Littink KW et al.
Investigative Ophthalmology & Visual Science, 2009
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
Freude K et al.
American Journal of Human Genetics, 2004
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