Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Aric van Kan"'
Autor:
Julie M. Eggington, Dmitry Pruss, Elisha Hughes, Lisa Esterling, Brandon S. Robinson, Karla R. Bowles, Richard J. Wenstrup, Alexander Gutin, Priscilla H. Fernandes, Benjamin B. Roa, Brian Morris, Aric van Kan
Publikováno v:
Breast Cancer Research and Treatment. 147:119-132
BRCA1 and BRCA2 sequencing analysis detects variants of uncertain clinical significance in approximately 2 % of patients undergoing clinical diagnostic testing in our laboratory. The reclassification of these variants into either a pathogenic or beni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78057ff40a26ccc85e482bd6041871e3
https://doi.org/10.1007/s10549-014-3065-9
https://doi.org/10.1007/s10549-014-3065-9
Autor:
Aaron Theisen, Brian Morris, Richard J. Wenstrup, Iain D. Kerr, Paris Vail, Julie M. Eggington, Kelsey Moyes, Brianna C. Burdett, Aric van Kan
Publikováno v:
Journal of Community Genetics
Genetic variants of uncertain clinical significance (VUSs) are a common outcome of clinical genetic testing. Locus-specific variant databases (LSDBs) have been established for numerous disease-associated genes as a research tool for the interpretatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4fcc6dea9af2cc1332a17d4b1c2b42f
https://pubmed.ncbi.nlm.nih.gov/25782689
https://pubmed.ncbi.nlm.nih.gov/25782689
Autor:
Krystal Brown, Iain D. Kerr, Kennedy L. Hardman, Nicholas J. Monteferrante, Dechie B. Sumampong, Aaron Theisen, Richard J. Wenstrup, Hannah C. Cox, Brianna C. Burdett, Erin Mundt, Paris Vail, Heather McElroy, Julie M. Eggington, Kelsey Moyes, Aric van Kan, Brent Evans
Publikováno v:
Journal of Community Genetics
Missense variants represent a significant proportion of variants identified in clinical genetic testing. In the absence of strong clinical or functional evidence, the American College of Medical Genetics recommends that these findings be classified a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d67260441e02a9c2498e49cf5068e5