| scholarly article | Q13442814 |
| P50 | author | Pål Møller | Q29643284 |
| P2093 | author name string | Lovise Mæhle | |
| Neal Clark | |||
| P2860 | cites work | Variation of breast cancer risk among BRCA1/2 carriers | Q24646346 |
| Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2 | Q28212276 | ||
| A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example | Q33475933 | ||
| High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series | Q33687533 | ||
| Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results | Q34788325 | ||
| Germ-Line Mutations in Mismatch Repair Genes Associated with Prostate Cancer | Q57694447 | ||
| P433 | issue | 5 | |
| P304 | page(s) | 568-571 | |
| P577 | publication date | 2011-02-22 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a family | |
| P478 | volume | 32 |
| Q38985355 | Assessing how reduced expression levels of the mismatch repair genes MLH1, MSH2, and MSH6 affect repair efficiency |
| Q50658933 | Assessing the pathogenicity of RYR1 variants in malignant hyperthermia. |
| Q51575250 | Bioinformatics for human genetics: promises and challenges. |
| Q34366990 | Gene expression profile of peripheral blood in colorectal cancer. |
| Q45345393 | Inherited deleterious variants in GALNT12 are associated with CRC susceptibility |
| Q45731113 | Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene |
| Q37733942 | The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry |
| Q90041254 | Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features |
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