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.

Authors:
Valentín F; de Tejada AH; Gonzaléz-Vioque E; García-Simón N; Sánchez A and 1 more

Journal:
Mol Genet Genomic Med

Publication Year: 2023

DOI:
10.1002/mgg3.2348

PMCID:
PMC10767673

PMID:
38146137

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Journal Information

Full Title: Mol Genet Genomic Med

Abbreviation: Mol Genet Genomic Med

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Last Updated: Aug 05, 2025