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PubPharm (62)
1
Publisher Correction : A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Bjørnstad, P.
|
Aaløkken, R.
|
Åsheim, J.
| +12
ErratumFor: Eur J Hum Genet. 2023 Nov 29;:. - PMID 38030917
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2
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Bjørnstad, P.
|
Aaløkken, R.
|
Åsheim, J.
| +12
ErratumIn: Eur J Hum Genet. 2024 Jan 4;:. - PMID 38172175
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3
MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome
enthalten in:
Scientific reports
| 2023
von
Wiik, M.
|
Negline, M.
|
Beisvåg, V.
| +16
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4
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
enthalten in:
BMC medical genomics
| 2023
von
Singh, A.
|
Talseth-Palmer, B.
|
Xavier, A.
| +3
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5
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
enthalten in:
BMC medical genomics
| 2023
von
Singh, A.
|
Talseth-Palmer, B.
|
Xavier, A.
| +3
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6
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
enthalten in:
BMC medical genomics
| 2023
von
Singh, A.
|
Talseth-Palmer, B.
|
Xavier, A.
| +3
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7
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk
enthalten in:
Molecular genetics and genomics : MGG
| 2023
von
Rocque, M.
|
Leipart, V.
|
Kumar Singh, A.
| +10
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8
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk
enthalten in:
Molecular genetics and genomics
| 2023
von
Rocque, M.
|
Leipart, V.
|
Kumar Singh, A.
| +10
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9
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk
enthalten in:
Molecular genetics and genomics
| 2023
von
Rocque, M.
|
Leipart, V.
|
Kumar Singh, A.
| +10
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10
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
enthalten in:
Genes
| 2023
von
Hovland, H.
|
Mchaina, E.
|
Høberg-Vetti, H.
| +7
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Familial cancer
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Genetics in medicine : official journal of the ...
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Thema
29
Journal Article
16
Research Support, Non-U.S. Gov't
9
Lynch syndrome
8
PMS2
6
Variant classification
5
Copy number variation (CNV)
5
Lamotrigine
5
Polymorphisms
5
Serum concentration
5
UGT1A4
4
Biomarkers, Tumor
4
Colorectal cancer
4
Glucuronidation
4
colorectal cancer
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isomiR
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DNA-Binding Proteins
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