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OMIC-08. COMPOUND HETEROZYGOSITY OF POLE AND PMS2 LEADS TO CMMRD-LIKE PHENOTYPE- “POLYNCH” SYNDROME

Mono-allelic germline pathogenic variants (PV) in one of the mismatch repair (MMR) system genes cause Lynch syndrome, associated mainly with colon and endometrial cancer in adults. Germline PVs in DNA polymerase epsilon (POLE) are associated with a dominantly inherited syndrome which confers risk fo...

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Detalles Bibliográficos
Autores principales:	Michaeli, Orli, Ladany, Hagay, Maruvka, Yosef E, Erez, Ayelet, Shachar, Shay Ben, Izraeli, Shai, Goldberg, Yael, Toledano, Helen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Omics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8168073/ http://dx.doi.org/10.1093/neuonc/noab090.155

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