Publications:

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

International Journal Of Molecular Sciences

Bonatti, Francesco F; Adorni, Alessia A; Matichecchia, Annalisa A; Mozzoni, Paola P; Uliana, Vera V; Pisani, Francesco F; Garavelli, Livia L; Graziano, Claudio C; Gnoli, Maria M; Carli, Diana D; Bigoni, Stefania S; Boschi, Elena E; Martorana, Davide D; Percesepe, Antonio A

Publication Date: 2017-09-29

Variant appearance in text: NF1: 1061A>G; Lys354Arg

PubMed Link: 28961165

Variant Present in the following documents:

• ijms-18-02071-s001.pdf

View BVdb publication page

Use of liquid biopsies to monitor disease progression in a sarcoma patient: a case report.

Bmc Cancer

Namløs, Heidi M HM; Zaikova, Olga O; Bjerkehagen, Bodil B; Vodák, Daniel D; Hovig, Eivind E; Myklebost, Ola O; Boye, Kjetil K; Meza-Zepeda, Leonardo A LA

Publication Date: 2017-01-06

Variant appearance in text: NF1: K354R

PubMed Link: 28061772

Variant Present in the following documents:

• Main text
• 12885_2016_2992_MOESM2_ESM.xls, sheet 1
• 12885_2016_Article_2992.pdf

View BVdb publication page