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Gene Mutation
Known as:
Gene Mutation Type
, DNA Alteration
, Gene Alteration
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The result of any gain, loss or alteration of the sequences comprising a gene, including all sequences transcribed into RNA.
National Institutes of Health
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Related topics
Related topics
50 relations
APC Gene Mut Anal Bld/T
CCR5 gene targeted mutation analysis:Prid:Pt:Bld:Nom:Molgen
CEBPA gene full mutation analysis:Prid:Pt:Bone mar:Nar:Molgen
CYP21A2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:Molgen
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Narrower (9)
Chromosome Aberrations
DNA Damage
Frameshift Mutation function
Gene Deletion
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Broader (3)
Molecular Genetics (discipline)
Mutation
Science of genetics
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
Correction of a pathogenic gene mutation in human embryos
Hong Ma
,
N. Marti-Gutierrez
,
+27 authors
S. Mitalipov
Nature
2017
Corpus ID: 92387112
Genome editing has potential for the targeted correction of germline mutations. Here we describe the correction of the…
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Highly Cited
2016
Highly Cited
2016
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
C. Pritchard
,
J. Mateo
,
+40 authors
P. Nelson
New England Journal of Medicine
2016
Corpus ID: 4917634
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
Acquired Resistance to Imatinib in Gastrointestinal Stromal Tumor Occurs Through Secondary Gene Mutation
C. Antonescu
,
P. Besmer
,
+10 authors
R. DeMatteo
Clinical Cancer Research
2005
Corpus ID: 2612910
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
ZAP-70 compared with immunoglobulin heavy-chain gene mutation status as a predictor of disease progression in chronic lymphocytic leukemia.
L. Rassenti
,
L. Huynh
,
+11 authors
T. Kipps
New England Journal of Medicine
2004
Corpus ID: 44866968
BACKGROUND The course of chronic lymphocytic leukemia (CLL) is variable. In aggressive disease, the CLL cells usually express an…
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Highly Cited
2004
Highly Cited
2004
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
H. Neumann
,
Christian Pawlu
,
+13 authors
C. Eng
JAMA
2004
Corpus ID: 21673619
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 Resistance to STI-571 Cancer Therapy Caused by BCR-ABL Gene Mutation or Amplification
M. Gorre
,
M. Mohammed
,
+4 authors
C. Sawyers
Science
2001
Corpus ID: 1279564
Clinical studies with the Abl tyrosine kinase inhibitor STI-571 in chronic myeloid leukemia demonstrate that many patients with…
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Highly Cited
1999
Highly Cited
1999
Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia.
R. Damle
,
T. Wasil
,
+13 authors
N. Chiorazzi
Blood
1999
Corpus ID: 14248051
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
Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia.
H. Kiyoi
,
T. Naoe
,
+15 authors
R. Ueda
Blood
1999
Corpus ID: 23367717
Internal tandem duplication of the FLT3 gene and point mutations of the N-RAS gene are the most frequent somatic mutations…
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Highly Cited
1990
Highly Cited
1990
Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation.
Akihiro Inazu
,
M. Brown
,
+6 authors
A. Tall
New England Journal of Medicine
1990
Corpus ID: 23000274
BACKGROUND AND METHODS The plasma cholesteryl-ester transfer protein (CETP) catalyzes the transfer of cholesteryl esters from…
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Highly Cited
1957
Highly Cited
1957
Gene Mutations in Human Hæmoglobin: the Chemical Difference Between Normal and Sickle Cell Hæmoglobin
V. Ingram
Nature
1957
Corpus ID: 4161107
Gene Mutations in Human Haemoglobin: the Chemical Difference Between Normal and Sickle Cell Haemoglobin
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