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Journal article

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

Abstract:

Mendelian tumour syndromes are caused by rare mutations, which usually lead to protein inactivation. Few studies have determined whether or not the same genes harbour other, more common variants, which might have a lower penetrance and/or cause mild disease, perhaps indistinguishable from sporadic disease and accounting for a considerable proportion of the unexplained inherited risk of tumours in the general population. Germline variants at the APC locus are excellent candidates for explainin...

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Publication status:
Published

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Journal:
Human molecular genetics
Volume:
9
Issue:
15
Pages:
2215-2221
Publication date:
2000-09-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:e48782e8-1a6c-44af-9b34-4a9c0c3b39ef
Source identifiers:
72017
Local pid:
pubs:72017

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