Genotype–Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a].

Autor: Chen, Yunjia1 (AUTHOR) chenyj@uab.edu, Fu, Yulong1,2 (AUTHOR) chenyj@uab.edu, Koczkowska, Magdalena1,3 (AUTHOR) agomes@uabmc.edu, Callens, Tom1 (AUTHOR) jianliu@uabmc.edu, Gomes, Alicia1 (AUTHOR) willb456@uab.edu, Liu, Jian1 (AUTHOR) ebfincher@uabmc.edu, Bradley, William1 (AUTHOR) brandonshaw@uabmc.edu, Brown, Bryce1 (AUTHOR) chuanhuafu@uabmc.edu, Shaw, Brandon1 (AUTHOR) dwallis@uab.edu, D'Agostino, Daniela4 (AUTHOR) daniela.dagostino.med@ssss.gouv.qc.ca, Fu, Chuanhua1 (AUTHOR), Wallis, Deeann1 (AUTHOR)
Zdroj: Cancers. Jul2024, Vol. 16 Issue 13, p2406. 16p.
Databáze: Academic Search Ultimate