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Nature Genetics|June 1, 1994
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouseS G Ryan, M S Buckwalter, J W Lynch, et al.
Nature Genetics|March 1, 1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina, R Shiang, L M Thompson, et al.
American Journal of Human Genetics|April 28, 2001
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANKE Reichenberger, V Tiziani, S Watanabe, et al.
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