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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.
Mol Genet Genomic Med. 2024 Jan;12(1):e2348. doi: 10.1002/mgg3.2348. Epub 2023 Dec 25.
Mol Genet Genomic Med. 2024.
PMID: 38146137
Free PMC article.
ctDNA from body fluids is an adequate source for EGFR biomarker testing in advanced lung adenocarcinoma.
Pérez-Barrios C, Sánchez-Herrero E, Garcia-Simón N, Barquín M, Clemente MB, Provencio M, Romero A.
Pérez-Barrios C, et al. Among authors: garcia simon n.
Clin Chem Lab Med. 2021 Mar 11;59(7):1221-1229. doi: 10.1515/cclm-2020-1465. Print 2021 Jun 25.
Clin Chem Lab Med. 2021.
PMID: 33691348
Free article.
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