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Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization.
Bozsik, Anikó; Butz, Henriett; Grolmusz, Vince Kornél; Polgár, Csaba; Patócs, Attila; Papp, János.
Affiliation
  • Bozsik A; Department of Molecular Genetics, National Institute of Oncology, Ráth György út 7-9, Budapest, H-1122, Hungary. bozsik.aniko@oncol.hu.
  • Butz H; Hereditary Cancers Research Group, Hungarian Academy of Sciences - Semmelweis University, Nagyvárad tér 4, Budapest, H-1089, Hungary. bozsik.aniko@oncol.hu.
  • Grolmusz VK; National Tumorbiology Laboratory, National Institute of Oncology, Ráth György út 7-9, Budapest, H-1122, Hungary. bozsik.aniko@oncol.hu.
  • Polgár C; Department of Molecular Genetics, National Institute of Oncology, Ráth György út 7-9, Budapest, H-1122, Hungary.
  • Patócs A; Hereditary Cancers Research Group, Hungarian Academy of Sciences - Semmelweis University, Nagyvárad tér 4, Budapest, H-1089, Hungary.
  • Papp J; National Tumorbiology Laboratory, National Institute of Oncology, Ráth György út 7-9, Budapest, H-1122, Hungary.
Eur J Hum Genet ; 31(7): 841-845, 2023 07.
Article in En | MEDLINE | ID: mdl-36828923
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adenomatous Polyposis Coli / Adenomatous Polyposis Coli Protein Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Adenomatous Polyposis Coli / Adenomatous Polyposis Coli Protein Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication: