Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification. (Q46602231)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification (English)

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7 January 2020

4

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7 January 2020

Saara Ollila

series ordinal

1

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7 January 2020

author name string

Denis Dermadi Bebek

series ordinal

2

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7 January 2020

Marc Greenblatt

series ordinal

3

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7 January 2020

language of work or name

English

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publication date

1 August 2008

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International Journal of Cancer

7 January 2020

published in

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7 January 2020

volume

123

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7 January 2020

page(s)

720-724

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7 January 2020

issue

3

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

7 January 2020

cites work

1 reference

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

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Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2

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