Publications:

A phase II study of everolimus in patients with advanced solid malignancies with TSC1, TSC2, NF1, NF2 or STK11 mutations.

Journal Of Thoracic Disease

Devarakonda, Siddhartha S; Pellini, Bruna B; Verghese, Luke L; Park, Haeseong H; Morgensztern, Daniel D; Govindan, Ramaswamy R; Suresh, Rama R; Oppelt, Peter P; Baggstrom, Maria Q MQ; Wu, Ningying N; Waqar, Saiama N SN

Publication Date: 2021-07

Variant appearance in text: NF1: R1038T

PubMed Link: 34422335

Variant Present in the following documents:

• Main text
• jtd-13-07-4054.pdf

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Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Genes

Stella, Alessandro A; Lastella, Patrizia P; Loconte, Daria Carmela DC; Bukvic, Nenad N; Varvara, Dora D; Patruno, Margherita M; Bagnulo, Rosanna R; Lovaglio, Rosaura R; Bartolomeo, Nicola N; Serio, Gabriella G; Resta, Nicoletta N

Publication Date: 2018-04-17

Variant appearance in text: NF1: 3113G>C; Arg1038Thr

PubMed Link: 29673180

Variant Present in the following documents:

• Main text
• genes-09-00216.pdf

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Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment.

European Journal Of Human Genetics : Ejhg

Pros, Eva E; Fernández-Rodríguez, Juana J; Benito, Llúcia L; Ravella, Anna A; Capellá, Gabriel G; Blanco, Ignacio I; Serra, Eduard E; Lázaro, Conxi C

Publication Date: 2010-05

Variant appearance in text: NF1: 3113G>C

PubMed Link: 19935827

Variant Present in the following documents:

• Main text

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