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

ConclusionOur study provides evidence supporting the classification of the c.386A>C p.(Asn129Thr) variant in SMAD4 as a likely pathogenic variant. This finding contributes to improved accuracy in the diagnosis and genetic counseling of JPS.

Source: Molecular Genetics & Genomic Medicine - December 26, 2023 Category: Genetics & Stem Cells Authors: F átima Valentín, Alberto Herreros de Tejada, Emiliano Gonzaléz‐Vioque, Natalia García‐Simón, Antonio Sánchez, Atocha Romero Tags: CLINICAL REPORT Source Type: research