(Q35616603)
Statements
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An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation (English)
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Lazaro C
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Upadhyaya M
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Huson SM
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Davies M
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Thomas N
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Chuzhanova N
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Giovannini S
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Howard E
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Kerr B
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Griffiths S
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Consoli C
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Side L
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Adams D
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Pierpont M
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Hachen R
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Barnicoat A
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Li H
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Wallace P
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Van Biervliet JP
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Stevenson D
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Viskochil D
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Baralle D
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Haan E
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Riccardi V
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Turnpenny P
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Messiaen L
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8 December 2006
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80
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1
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140-151
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Identifiers
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