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Homo sapiens
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Transcription profiling by array
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Gene discovery from microbial gene libraries I: protection against reactive oxygen species-driven DNA damage.
Not available
S-EPMC11536983
|
biostudies-literature
Cite
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Not available
S-EPMC6001798
|
biostudies-literature
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Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.
Not available
S-EPMC4758821
|
biostudies-literature
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Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.
Not available
S-EPMC6930000
|
biostudies-literature
Cite
Cytogenetic prognostication within medulloblastoma subgroups.
Not available
S-EPMC3948094
|
biostudies-literature
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Not available
S-EPMC4908219
|
biostudies-literature
Cite
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Not available
S-EPMC6520241
|
biostudies-literature
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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Not available
S-EPMC6032922
|
biostudies-literature
Cite
Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.
Not available
S-EPMC5023174
|
biostudies-literature
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Intravenous Vitamin C for Patients Hospitalized With COVID-19: Two Harmonized Randomized Clinical Trials.
Not available
S-EPMC10600726
|
biostudies-literature
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