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Journal article

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Abstract:

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant c...

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Publication status:
Published

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Publisher copy:
10.1038/ng.2854

Authors


Thompson, BA More by this author
Spurdle, AB More by this author
Plazzer, JP More by this author
Greenblatt, MS More by this author
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Journal:
Nature genetics
Volume:
46
Issue:
2
Pages:
107-115
Publication date:
2014-02-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:ef6d26b2-a495-4cfd-88f9-a4669a6f1113
Source identifiers:
444063
Local pid:
pubs:444063

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