Articles with "candidate variants" as a keyword



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Theme 4 In vivo experimental models

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Published in 2019 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"

DOI: 10.1080/21678421.2019.1646992

Abstract: Background: In 90% of Amyotrophic Lateral Sclerosis (ALS) cases, the disease is sporadic, the remaining 10% being familial. Many genes have been associated with the disease. The use of next generation sequencing has allowed increasing… read more here.

Keywords: overexpression; analysis; model; pathogenicity ... See more keywords
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Identification of Lynch syndrome risk variants in the Romanian population

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Published in 2018 at "Journal of Cellular and Molecular Medicine"

DOI: 10.1111/jcmm.13881

Abstract: Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH,… read more here.

Keywords: pms2; risk; romanian population; lynch syndrome ... See more keywords