Publications:

An interesting case of likely BRCA2 related bilateral breast cancer with metastasis in the fimbrial part of fallopian tube.

Hereditary Cancer In Clinical Practice

Boltežar, Lučka L; Gašljević, Gorana G; Novaković, Srdjan S; Stegel, Vida V; Škof, Erik E

Publication Date: 2020

Variant appearance in text: NF1: 945G>A

PubMed Link: 32206145

Variant Present in the following documents:

• 13053_2020_Article_139.pdf

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Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.

Plos One

Hernández-Imaz, Elisabete E; Martín, Yolanda Y; de Conti, Laura L; Melean, German G; Valero, Ana A; Baralle, Marco M; Hernández-Chico, Concepción C

Publication Date: 2015

Variant appearance in text: NF1: 945G>A

PubMed Link: 26509978

Variant Present in the following documents:

• pone.0141735.pdf

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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: 945G>A

PubMed Link: 17295913

Variant Present in the following documents:

• Main text
• 1471-2350-8-4.pdf

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