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Gene Mutation

Known as: Gene Mutation Type, DNA Alteration, Gene Alteration 
The result of any gain, loss or alteration of the sequences comprising a gene, including all sequences transcribed into RNA.
National Institutes of Health

Papers overview

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Highly Cited
2016
Highly Cited
2016
BACKGROUND Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer… 
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Highly Cited
2005
Highly Cited
2005
Most gastrointestinal stromal tumors (GIST) have an activating mutation in either KIT or PDGFRA. Imatinib is a selective tyrosine… 
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Highly Cited
2004
Highly Cited
2004
BACKGROUND The course of chronic lymphocytic leukemia (CLL) is variable. In aggressive disease, the CLL cells usually express an… 
Highly Cited
2004
Highly Cited
2004
CONTEXT Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to… 
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Highly Cited
2001
Highly Cited
2001
Clinical studies with the Abl tyrosine kinase inhibitor STI-571 in chronic myeloid leukemia demonstrate that many patients with… 
Highly Cited
1999
Highly Cited
1999
Cellular immunophenotypic studies were performed on a cohort of randomly selected IgM(+) B-chronic lymphocytic leukemia (B-CLL… 
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Highly Cited
1999
Highly Cited
1999
Cellular immunophenotypic studies were performed on a cohort of randomly selected IgM + B-chronic lymphocytic leukemia (B-CLL… 
Highly Cited
1999
Highly Cited
1999
Internal tandem duplication of the FLT3 gene and point mutations of the N-RAS gene are the most frequent somatic mutations… 
Highly Cited
1990
Highly Cited
1990
BACKGROUND AND METHODS The plasma cholesteryl-ester transfer protein (CETP) catalyzes the transfer of cholesteryl esters from… 
Highly Cited
1957
Highly Cited
1957
Gene Mutations in Human Haemoglobin: the Chemical Difference Between Normal and Sickle Cell Haemoglobin