The c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant
- Valentín, F.
- de Tejada, A.H.
- Gonzaléz-Vioque, E.
- García-Simón, N.
- Sánchez, A.
- Romero, A.
Zeitschrift:
Molecular Genetics and Genomic Medicine
ISSN: 2324-9269
Datum der Publikation: 2024
Ausgabe: 12
Nummer: 1
Art: Artikel