Publications:

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bmc Medical Genetics

Bottillo, Irene I; De Luca, Alessandro A; Schirinzi, Annalisa A; Guida, Valentina V; Torrente, Isabella I; Calvieri, Stefano S; Gervasini, Cristina C; Larizza, Lidia L; Pizzuti, Antonio A; Dallapiccola, Bruno B

Publication Date: 2007-02-12

Variant appearance in text: NF1: 476delC

PubMed Link: 17295913

Variant Present in the following documents:

• Main text
• 1471-2350-8-4.pdf

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