Publications:

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V

Publication Date: 2019-11-21

Variant appearance in text: NF1: 1275G>A; Trp425*

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

American Journal Of Human Genetics

Fahsold, R R; Hoffmeyer, S S; Mischung, C C; Gille, C C; Ehlers, C C; Kücükceylan, N N; Abdel-Nour, M M; Gewies, A A; Peters, H H; Kaufmann, D D; Buske, A A; Tinschert, S S; Nürnberg, P P

Publication Date: 2000-03

Variant appearance in text: NF1: W425X

PubMed Link: 10712197

Variant Present in the following documents:

• Main text

View BVdb publication page