Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6

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http://www.wikidata.org/entity/Q35836701
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicityMicrosatellite instability in pediatric high grade glioma is associated with genomic profile and differential target gene inactivation.An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumorsCharacterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndromeDe novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in oneMeta-analysis of MSH6 gene mutation frequency in colorectal and endometrial cancers.Mismatch repair deficiency testing in clinical practice.A high frequency of MSH6 G268A polymorphism and survival association in glioblastoma.ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.Evaluation of sieving matrices used to separate alleles by cycling temperature capillary electrophoresis.
P2860

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6

Item
http://www.wikidata.org/entity/Q35836701
description
2005 nî lūn-bûn
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2005年の論文
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2005年論文
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2005年論文
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2005年論文
@zh-hk
2005年論文
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2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
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2005年论文
@zh-cn
name
Assay validation for identific ...... air genes MLH1, MSH2, and MSH6
@ast
Assay validation for identific ...... air genes MLH1, MSH2, and MSH6
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type
label
Assay validation for identific ...... air genes MLH1, MSH2, and MSH6
@ast
Assay validation for identific ...... air genes MLH1, MSH2, and MSH6
@en
prefLabel
Assay validation for identific ...... air genes MLH1, MSH2, and MSH6
@ast
Assay validation for identific ...... air genes MLH1, MSH2, and MSH6
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P932
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P1433
P1476
Assay validation for identific ...... air genes MLH1, MSH2, and MSH6
@en
P2093
P2860
P304
P31
P356
10.1016/S1525-1578(10)60584-3
P433
P478
P577
P5875
P698
P932