Items where Author is "Turnpenny, P"

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Journal article

Upadhyaya, M, Huson, SM, Davies, M, Thomas, N, Chuzhanova, N ORCID: 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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