Diagnoses of double heterozygous NF1 variants and dual RASopathy
Daniela Angelova-Toshkina, Denny Schanze, Pia Vaassen, Michael C Frühwald, Thorsten Rosenbaum, Martin Zenker, Michaela Kuhlen · 2026
Read Diagnoses of double heterozygous NF1 variants and dual RASopathy by Daniela Angelova-Toshkina, Denny Schanze, Pia Vaassen, Michael C Frühwald, Thorsten Rosenbaum, Martin Zenker, Michaela Kuhlen (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13100077.txt.
Description
A peer-reviewed research article from Europe PMC (2026). Genetic testing in neurofibromatosis type 1 (NF1) occasionally reveals two heterozygous NF1 variants in the same individual. Correct interpretation hinges on allelic phasing, elucidation of somatic second hits in lesions, and distinction from bona fide dual RASopathy diagnoses.
Catalog record
| CREATOR | Daniela Angelova-Toshkina, Denny Schanze, Pia Vaassen, Michael C Frühwald, Thorsten Rosenbaum, Martin Zenker, Michaela Kuhlen |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 41 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |