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  1. 1201
    “…Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO). …”
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    Incontinentia Pigmenti in a Newborn with NEMO Mutation
  2. 1202
    “…A high frequency of individual mutations in both genes (51I and 108N in pfdhfr, and 437G in pfdhps) was found, besides a low prevalence of the quintuple mutation. …”
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    Evaluation of prevalence's of pfdhfr and pfdhps mutations in Angola
  3. 1203
    por Sullivan, Kevin M., Kozuch, Peter S.
    Publicado 2011
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    Impact of KRAS Mutations on Management of Colorectal Carcinoma
  4. 1204
    “…RESULTS: We have investigated the effect of various Alu densities on the mutation type based classifications of cancer genes. …”
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    Alu distribution and mutation types of cancer genes
  5. 1205
    “…PURPOSE: Myocilin (MYOC) mutations are associated with primary open-angle glaucoma (POAG) in multiple populations. …”
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    Myocilin mutations in black South Africans with POAG
  6. 1206
    por Nelson, Chase W, Sanford, John C
    Publicado 2011
    “…Previous work has used the program to study the evolutionary origin of complex features, namely logic operations, but has consistently used extremely large mutational fitness effects. The present study uses Avida to better understand the role of low-impact mutations in evolution. …”
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    The effects of low-impact mutations in digital organisms
  7. 1207
    por Dingli, David, Pacheco, Jorge M
    Publicado 2011
    “…Stem cells are the target of mutations that can lead to life threatening diseases. …”
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    Stochastic dynamics and the evolution of mutations in stem cells
  8. 1208
    “…Thus, pinpointing the key alterations (driver mutations) from a background of variations with no direct causal link to cancer (passenger mutations) is difficult. …”
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    Germline Fitness-Based Scoring of Cancer Mutations
  9. 1209
    “…METHODS: Using the Catalogue of Somatic Mutations in Cancer (COSMIC), we construct networks of interacting cancers and genes. …”
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    Multiplicity: an organizing principle for cancers and somatic mutations
  10. 1210
    “…Here, we describe a hermaphrodite-inducing mutation that is almost certainly localized to the gynoecium-suppression region of the Y chromosome in S. latifolia. …”
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    A sex-chromosome mutation in Silene latifolia
  11. 1211
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    YMDD motif mutation after lamivudine therapy
  12. 1212
    “…PURPOSE: To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia. …”
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    VSX2 mutations in autosomal recessive microphthalmia
  13. 1213
    “…We study the dynamics of adaptation in asexual populations that undergo both beneficial and deleterious mutations. In particular, how the deleterious mutations affect the fixation of beneficial mutations was investigated. …”
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    The Influence of Deleterious Mutations on Adaptation in Asexual Populations
  14. 1214
    “…Although various approaches exist for the detection of such correlated mutations, in general these methods utilize only pairwise correlations. …”
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    Correlated mutations via regularized multinomial regression
  15. 1215
    “…Mutations in the gene encoding the immunoglobulin-superfamily member cell adhesion molecule contactin1 (CNTN1) cause lethal congenital myopathy in human patients and neurodevelopmental phenotypes in knockout mice. …”
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    A Spontaneous Mutation in Contactin 1 in the Mouse
  16. 1216
    “…In one proband only an heterozygous mutation (A684V) was found. Two new variants c.2663 C>A and c.1381 A>C were detected. …”
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    Wolfram Syndrome: New Mutations, Different Phenotype
  17. 1217
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    KRAS and EGFR mutations coexisting in lung adenocarcinoma
  18. 1218
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    EGFR unusual mutation status in lung adenocarcinomas
  19. 1219
    por Simmons, Timothy, Appel, Bruce
    Publicado 2012
    “…METHODOLOGY/PRINCIPAL FINDINGS: By conducting a mutagenesis screen in transgenic zebrafish, we identified a mutation, designated vu166, by an apparent reduction in the number of oligodendrocyte progenitor cells in the dorsal spinal cord. …”
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    Mutation of pescadillo Disrupts Oligodendrocyte Formation in Zebrafish
  20. 1220
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    HFE Gene Mutations in Cryptogenic Cirrhosis Patients
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