An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970_2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation

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Upadhyaya, M, Huson, SM, Davies, M, Thomas, N, Chuzhanova, N ORCID: https://orcid.org/0000-0002-4655-3618, Giovannini, S, Evans, DG, Howard, E, Kerr, B, Griffiths, S, Consoli, C, Side, L, Adams, D, Pierpoint, M, Hachen, R, Barnicoat, A, Li, H, Wallace, P, Stevenson, D, Viskochil, D, Baralle, D, Haan, E, Turnpenny, P, Riccardi, V, Lazaro, C and Messiaen, L, 2007. An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970_2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation. American Journal of Human Genetics, 80, pp. 140-151.

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Item Type:	Journal article
Publication Title:	American Journal of Human Genetics
Creators:	Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpoint, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Turnpenny, P., Riccardi, V., Lazaro, C. and Messiaen, L.
Date:	2007
Volume:	80
Divisions:	Schools > School of Science and Technology
Record created by:	EPrints Services
Date Added:	09 Oct 2015 11:14
Last Modified:	09 Jun 2017 13:53
URI:	https://irep.ntu.ac.uk/id/eprint/24896