A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
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The genetic basis of colonic adenomatous polyposis syndromesRisks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor HeterogeneityReplicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.DNA Polymerase ɛ Deficiency Leading to an Ultramutator Phenotype: A Novel Clinically Relevant Entity.Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.Functional Analysis of Cancer-Associated DNA Polymerase ε Variants in Saccharomyces cerevisiae.
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A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 29 August 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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name
A novel germline POLE mutation ...... al mismatch repair deficiency.
@en
A novel germline POLE mutation ...... al mismatch repair deficiency.
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type
label
A novel germline POLE mutation ...... al mismatch repair deficiency.
@en
A novel germline POLE mutation ...... al mismatch repair deficiency.
@nl
prefLabel
A novel germline POLE mutation ...... al mismatch repair deficiency.
@en
A novel germline POLE mutation ...... al mismatch repair deficiency.
@nl
P2093
P2860
P1433
P1476
A novel germline POLE mutation ...... nal mismatch repair deficiency
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P2093
Andreas Beilken
Britta Lamottke
Christian P Kratz
Christine Fauth
Diana Steinmann
Johannes Zschocke
Katharina Wimmer
Rainer Nustede
Tanja Reineke-Plaass
P2860
P2888
P356
10.1007/S10689-016-9925-1
P50
P577
2017-01-01T00:00:00Z