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Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
Li, Shuwei; Qian, Dajun; Thompson, Bryony A; Gutierrez, Stephanie; Wu, Sitao; Pesaran, Tina; LaDuca, Holly; Lu, Hsiao-Mei; Chao, Elizabeth C; Black, Mary Helen.
Affiliation
  • Li S; Bioinformatics, Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Qian D; Bioinformatics, Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Thompson BA; Royal Melbourne Hospital, Melbourne, Victoria, Australia.
  • Gutierrez S; Department of Clinical Pathology, University of Melbourne, Parkville, Victoria, Australia.
  • Wu S; Clinical Diagnostics, Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Pesaran T; Bioinformatics, Ambry Genetics Corp, Aliso Viejo, California, USA.
  • LaDuca H; Clinical Diagnostics, Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Lu HM; Clinical Diagnostics, Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Chao EC; Bioinformatics, Ambry Genetics Corp, Aliso Viejo, California, USA.
  • Black MH; Clinical Diagnostics, Ambry Genetics Corp, Aliso Viejo, California, USA.
J Med Genet ; 57(1): 62-69, 2020 Jan.
Article in En | MEDLINE | ID: mdl-31391288
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / DNA Mismatch Repair / Neoplasms Type of study: Guideline / Prognostic_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2020 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / DNA Mismatch Repair / Neoplasms Type of study: Guideline / Prognostic_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2020 Type: Article Affiliation country: United States