(Q57200486)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951442%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

A database to support the interpretation of human mismatch repair gene variants (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951442%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

0 references

1 reference

5

1 reference

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25 December 2019

Rolf H Sijmons

6

1 reference

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25 December 2019

author name string

Jianghua Ou

1

1 reference

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25 December 2019

Jan Vonk

3

1 reference

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25 December 2019

Helga Westers

4

1 reference

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25 December 2019

Renée C Niessen

2

1 reference

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25 December 2019

publication date

1 November 2008

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25 December 2019

1 reference

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25 December 2019

volume

29

1 reference

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25 December 2019

issue

11

1 reference

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25 December 2019

page(s)

1337-1341

1 reference

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Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

25 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Recommendations of the 2006 Human Variome Project meeting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Assessment of functional effects of unclassified genetic variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

The first functional study of MLH3 mutations found in cancer patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Human Gene Mutation Database: towards a comprehensive central mutation database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

In silico analysis of missense substitutions using sequence-alignment based methods

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

A new variant database for mismatch repair genes associated with Lynch syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

A role for MLH3 in hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20907

7 January 2021

Identifiers

DOI

10.1002/HUMU.20907

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18951442%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference