Specifications of the ACMG/AMP Variant Curation Guidelines for the Analysis of Germline CDH1 Sequence Variants

The variant curation guidelines published in 2015 by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) provided the genetics community with a framework to assess variant pathogenicity; however, these rules are not gene-specific. Germline pat...

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Publicado no:Hum Mutat
Main Authors: Lee, Kristy, Krempely, Kate, Roberts, Maegan E., Anderson, Michael J., Carneiro, Fatima, Chao, Elizabeth, Dixon, Katherine, Figueiredo, Joana, Ghosh, Rajarshi, Huntsman, David, Kaurah, Pardeep, Kesserwan, Chimene, Landrith, Tyler, Li, Shuwei, Mensenkamp, Arjen R., Oliveira, Carla, Pardo, Carolina, Pesaran, Tina, Richardson, Matthew, Slavin, Thomas P., Spurdle, Amanda B., Trapp, Mackenzie, Witkowski, Leora, Yi, Charles S., Zhang, Liying, Plon, Sharon E., Schrader, Kasmintan A., Karam, Rachid
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6188664/
https://ncbi.nlm.nih.gov/pubmed/30311375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23650
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