High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Hum Mutat
; 43(12): 2130-2140, 2022 12.
Article
en En
| MEDLINE
| ID: mdl-36251260
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Neurofibromatosis 1
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Humans
Idioma:
En
Año:
2022
Tipo del documento:
Article