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6 in total

1. Quantification of splice variants using real-time PCR.

Authors: I I Vandenbroucke; J Vandesompele; A D Paepe; L Messiaen
Journal: Nucleic Acids Res Date: 2001-07-01 Impact factor: 16.971

2. Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

Authors: S Hoffmeyer; P Nürnberg; H Ritter; R Fahsold; W Leistner; D Kaufmann; W Krone
Journal: Am J Hum Genet Date: 1998-02 Impact factor: 11.025

3. 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.

Authors: R Fahsold; S Hoffmeyer; C Mischung; C Gille; C Ehlers; N Kücükceylan; M Abdel-Nour; A Gewies; H Peters; D Kaufmann; A Buske; S Tinschert; P Nürnberg
Journal: Am J Hum Genet Date: 2000-03 Impact factor: 11.025

4. Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Authors: S D Ulusal; H Gürkan; E Atlı; S A Özal; M Çiftdemir; H Tozkır; Y Karal; H Güçlü; D Eker; I Görker
Journal: Balkan J Med Genet Date: 2017-06-30 Impact factor: 0.519

5. Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension.

Authors: Yi-Ting Lu; Di Zhang; Xin-Chang Liu; Qiong-Yu Zhang; Xue-Qi Dong; Peng Fan; Yan Xiao; Xian-Liang Zhou
Journal: Front Pediatr Date: 2021-12-20 Impact factor: 3.418

6. Identification of Germinal Neurofibromin Hotspots.

Authors: Sergio Lois; Juan Báez-Flores; María Isidoro-García; Jesus Lacal; Juan Carlos Triviño
Journal: Biomedicines Date: 2022-08-21

6 in total