Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
Open Access
- 1 January 2004
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 41 (1), 35-41
- https://doi.org/10.1136/jmg.2003.014761
Abstract
Over 70% of NF1 germline mutations cause truncation or loss of the encoded protein.Keywords
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