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Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.

UniProtKB (1) rdf/xml

Debeer P., Bacchelli C., Scambler P.J., De Smet L., Fryns J.-P., Goodman F.R.

J. Med. Genet. 39:852-856(2002) [PubMed] [Europe PMC]