论文信息 - Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic - 字舞流文

Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic

P. Hainaut | L. Mirabello | S. Savage | L. Kowalski | Amina Amadou | Nathanaël Lemonnier | Jung Kim | T. Wegman-Ostrosky | K. D. de Andrade | M. Achatz | D. Stewart | M. Frone | F. P. Fortes | Payal P. Khincha | K. Santiago | Megan N. Frone | N. Lemonnier | A. Amadou

[1] D. Evans,et al. Concern regarding classification of germline TP53 variants as likely pathogenic , 2019, Human mutation.

[2] P. Hainaut,et al. Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis , 2018, Human mutation.

[3] Matthew S. Lebo,et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. , 2016, American journal of human genetics.

[4] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.